-
1
-
-
80051631085
-
Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms
-
Abu-Safieh, L., E. B. Abboud, H. Alkuraya, H. Shamseldin, S. Al-Enzi, L. Al-Abdi, et al. 2011. Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. Am. J. Hum. Genet. 89:313–319.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 313-319
-
-
Abu-Safieh, L.1
Abboud, E.B.2
Alkuraya, H.3
Shamseldin, H.4
Al-Enzi, S.5
Al-Abdi, L.6
-
2
-
-
84873377444
-
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
-
Abu-Safieh, L., M. Alrashed, S. Anazi, H. Alkuraya, A. O. Khan, M. Al-Owain, et al. 2013. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 23:236–247.
-
(2013)
Genome Res
, vol.23
, pp. 236-247
-
-
Abu-Safieh, L.1
Alrashed, M.2
Anazi, S.3
Alkuraya, H.4
Khan, A.O.5
Al-Owain, M.6
-
3
-
-
84890656920
-
Ciliary Genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX
-
Adly, N., A. Alhashem, A. Ammari, and F. S. Alkuraya. 2014. Ciliary Genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum. Mutat. 35:36–40.
-
(2014)
Hum. Mutat.
, vol.35
, pp. 36-40
-
-
Adly, N.1
Alhashem, A.2
Ammari, A.3
Alkuraya, F.S.4
-
4
-
-
84864461405
-
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
-
Alangari, A., A. Alsultan, N. Adly, M. J. Massaad, I. S. Kiani, A. Aljebreen, et al. 2012. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J. Allergy Clin. Immunol. 130:e482.
-
(2012)
J. Allergy Clin. Immunol.
, vol.130
, pp. e482
-
-
Alangari, A.1
Alsultan, A.2
Adly, N.3
Massaad, M.J.4
Kiani, I.S.5
Aljebreen, A.6
-
5
-
-
84889028937
-
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family
-
Alangari, A. A., A. Alsultan, M. E. Osman, S. Anazi, and F. S. Alkuraya. 2013. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J. Clin. Immunol. 33:1403–1406.
-
(2013)
J. Clin. Immunol.
, vol.33
, pp. 1403-1406
-
-
Alangari, A.A.1
Alsultan, A.2
Osman, M.E.3
Anazi, S.4
Alkuraya, F.S.5
-
6
-
-
14944376955
-
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene
-
Al-Aqeel, A. I. 2005. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene. Saudi Med. J. 26:24–30.
-
(2005)
Saudi Med. J.
, vol.26
, pp. 24-30
-
-
Al-Aqeel, A.I.1
-
7
-
-
57049100876
-
Mutations in C2orf37 encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
-
Alazami, A. M., A. Al-Saif, A. Al-Semari, S. Bohlega, S. Zlitni, F. Alzahrani, et al. 2008. Mutations in C2orf37 encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am. J. Hum. Genet. 83:684–691.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 684-691
-
-
Alazami, A.M.1
Al-Saif, A.2
Al-Semari, A.3
Bohlega, S.4
Zlitni, S.5
Alzahrani, F.6
-
8
-
-
84855281514
-
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
-
Alazami, A. M., N. Adly, H. Al Dhalaan, and F. S. Alkuraya. 2011. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics 12: 333–336.
-
(2011)
Neurogenetics
, vol.12
, pp. 333-336
-
-
Alazami, A.M.1
Adly, N.2
Al Dhalaan, H.3
Alkuraya, F.S.4
-
9
-
-
84866299495
-
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
-
Alazami, A. M., M. Al-Owain, F. Alzahrani, T. Shuaib, H. Al-Shamrani, Y. H. Al-Falki, et al. 2012. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum. Mutat. 33:1429–1434.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1429-1434
-
-
Alazami, A.M.1
Al-Owain, M.2
Alzahrani, F.3
Shuaib, T.4
Al-Shamrani, H.5
Al-Falki, Y.H.6
-
10
-
-
84883140214
-
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
-
Alazami, A. M., H. Hijazi, M. S. Al-Dosari, R. Shaheen, A. Hashem, M. A. Aldahmesh, et al. 2013. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J. Med. Genet. 50: 425–430.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 425-430
-
-
Alazami, A.M.1
Hijazi, H.2
Al-Dosari, M.S.3
Shaheen, R.4
Hashem, A.5
Aldahmesh, M.A.6
-
11
-
-
85047688256
-
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
-
Alazami, A. M., H. Hijazi, A. Y. Kentab, and F. S. Alkuraya. 2014a. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. J. Med. Genet. 51:224–228.
-
(2014)
J. Med. Genet.
, vol.51
, pp. 224-228
-
-
Alazami, A.M.1
Hijazi, H.2
Kentab, A.Y.3
Alkuraya, F.S.4
-
12
-
-
84902163768
-
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
-
Alazami, A. M., F. Alzahrani, S. Bohlega, and F. S. Alkuraya. 2014b. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology 82:1665– 1666.
-
(2014)
Neurology
, vol.82
, pp. 1665-1666
-
-
Alazami, A.M.1
Alzahrani, F.2
Bohlega, S.3
Alkuraya, F.S.4
-
13
-
-
84896542371
-
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation
-
Albaqumi, M., F. A. Alhabib, H. E. Shamseldin, F. Mohammed, and F. S. Alkuraya. 2014. A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation. J. Med. Genet. 51:271–274.
-
(2014)
J. Med. Genet.
, vol.51
, pp. 271-274
-
-
Albaqumi, M.1
Alhabib, F.A.2
Shamseldin, H.E.3
Mohammed, F.4
Alkuraya, F.S.5
-
14
-
-
63749085792
-
Allelic heterogeneity in inbred populations: The Saudi experience with Alstrom syndrome as an illustrative example
-
Aldahmesh, M. A., L. Abu-Safieh, A. O. Khan, Z. N. Al-Hassnan, R. Shaheen, M. Rajab, et al. 2009. Allelic heterogeneity in inbred populations: the Saudi experience with Alstrom syndrome as an illustrative example. Am. J. Med. Genet. A 149:662–665.
-
(2009)
Am. J. Med. Genet. A
, vol.149
, pp. 662-665
-
-
Aldahmesh, M.A.1
Abu-Safieh, L.2
Khan, A.O.3
Al-Hassnan, Z.N.4
Shaheen, R.5
Rajab, M.6
-
15
-
-
83555175990
-
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia
-
Aldahmesh, M. A., J. Y. Mohamed, H. S. Alkuraya, I. C. Verma, R. D. Puri, A. A. Alaiya, et al. 2011a. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am. J. Hum. Genet. 89:745–750.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 745-750
-
-
Aldahmesh, M.A.1
Mohamed, J.Y.2
Alkuraya, H.S.3
Verma, I.C.4
Puri, R.D.5
Alaiya, A.A.6
-
16
-
-
81155161043
-
Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations
-
Aldahmesh, M. A., A. O. Khan, J. Mohamed, and F. S. Alkuraya. 2011b. Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet. Med. 13:978–981.
-
(2011)
Genet. Med.
, vol.13
, pp. 978-981
-
-
Aldahmesh, M.A.1
Khan, A.O.2
Mohamed, J.3
Alkuraya, F.S.4
-
17
-
-
84865166506
-
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus
-
Aldahmesh, M. A., A. O. Khan, J. Y. Mohamed, M. H. Alghamdi, and F. S. Alkuraya. 2012a. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum. Mutat. 33:960–962.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 960-962
-
-
Aldahmesh, M.A.1
Khan, A.O.2
Mohamed, J.Y.3
Alghamdi, M.H.4
Alkuraya, F.S.5
-
18
-
-
84870696384
-
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes
-
Aldahmesh, M. A., A. O. Khan, J. Y. Mohamed, H. Hijazi, M. Al-Owain, A. Alswaid, et al. 2012b. Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet. Med. 14:955–962.
-
(2012)
Genet. Med.
, vol.14
, pp. 955-962
-
-
Aldahmesh, M.A.1
Khan, A.O.2
Mohamed, J.Y.3
Hijazi, H.4
Al-Owain, M.5
Alswaid, A.6
-
19
-
-
84869027919
-
Homozygous null mutation in ODZ3 causes microphthalmia in humans
-
Aldahmesh, M. A., J. Y. Mohammed, S. Al-Hazzaa, and F. S. Alkuraya. 2012c. Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet. Med. 14:900–904.
-
(2012)
Genet. Med.
, vol.14
, pp. 900-904
-
-
Aldahmesh, M.A.1
Mohammed, J.Y.2
Al-Hazzaa, S.3
Alkuraya, F.S.4
-
20
-
-
84881667860
-
Mutations in LRPAP1 are associated with severe myopia in humans
-
Aldahmesh, M. A., A. O. Khan, H. Alkuraya, N. Adly, S. Anazi, A. A. Al-Saleh, et al. 2013a. Mutations in LRPAP1 are associated with severe myopia in humans. Am. J. Hum. Genet. 93:313–320.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 313-320
-
-
Aldahmesh, M.A.1
Khan, A.O.2
Alkuraya, H.3
Adly, N.4
Anazi, S.5
Al-Saleh, A.A.6
-
21
-
-
84881616452
-
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18
-
Aldahmesh, M. A., M. J. Alshammari, A. O. Khan, J. Y. Mohamed, F. A. Alhabib, and F. S. Alkuraya. 2013b. The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum. Mutat. 34:1195–1199.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 1195-1199
-
-
Aldahmesh, M.A.1
Alshammari, M.J.2
Khan, A.O.3
Mohamed, J.Y.4
Alhabib, F.A.5
Alkuraya, F.S.6
-
22
-
-
84880174805
-
Homozygous truncation of SIX6 causes complex microphthalmia in humans
-
Aldahmesh, M., A. Khan, H. Hijazi, and F. Alkuraya. 2013c. Homozygous truncation of SIX6 causes complex microphthalmia in humans. Clin. Genet. 84:198–199.
-
(2013)
Clin. Genet.
, vol.84
, pp. 198-199
-
-
Aldahmesh, M.1
Khan, A.2
Hijazi, H.3
Alkuraya, F.4
-
23
-
-
84901337195
-
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
-
Aldahmesh, M. A., Y. Li, A. Alhashem, S. Anazi, H. Alkuraya, M. Hashem, et al. 2014. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum. Mol. Genet. 23:3307–3315.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 3307-3315
-
-
Aldahmesh, M.A.1
Li, Y.2
Alhashem, A.3
Anazi, S.4
Alkuraya, H.5
Hashem, M.6
-
24
-
-
77953704592
-
Novel CENPJ mutation causes seckel syndrome
-
Al-Dosari, M. S., R. Shaheen, D. Colak, and F. S. Alkuraya. 2010. Novel CENPJ mutation causes seckel syndrome. J. Med. Genet. 47:411–414.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 411-414
-
-
Al-Dosari, M.S.1
Shaheen, R.2
Colak, D.3
Alkuraya, F.S.4
-
25
-
-
84872132803
-
Mutation in MPDZ causes severe congenital hydrocephalus
-
Al-Dosari, M. S., M. Al-Owain, M. Tulbah, W. Kurdi, N. Adly, A. Al-Hemidan, et al. 2013. Mutation in MPDZ causes severe congenital hydrocephalus. J. Med. Genet. 50:54–58.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 54-58
-
-
Al-Dosari, M.S.1
Al-Owain, M.2
Tulbah, M.3
Kurdi, W.4
Adly, N.5
Al-Hemidan, A.6
-
26
-
-
34250706276
-
Premarital screening for thalassemia and sickle cell disease in Saudi Arabia
-
AlHamdan, N. A., Y. Y. AlMazrou, F. M. AlSwaidi, and A. J. Choudhry. 2007. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genet. Med. 9:372–377.
-
(2007)
Genet. Med.
, vol.9
, pp. 372-377
-
-
Alhamdan, N.A.1
Almazrou, Y.Y.2
Alswaidi, F.M.3
Choudhry, A.J.4
-
27
-
-
0029934770
-
Neonatal screening for congenital hypothyroidism in Saudi Arabia: Results of screening the first 1 million newborns
-
Al-Jurayyan, N. A., A. A. Al-Nuaim, M. I. El-Desouki, A. S. A. Herbish, A. M. A. Bakr, A. A. Swailem, et al. 1996. Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns. Screening 4:213–220.
-
(1996)
Screening
, vol.4
, pp. 213-220
-
-
Al-Jurayyan, N.A.1
Al-Nuaim, A.A.2
El-Desouki, M.I.3
Herbish, A.S.A.4
Bakr, A.M.A.5
Swailem, A.A.6
-
28
-
-
78650661121
-
Autozygome decoded
-
Alkuraya, F. S. 2010a. Autozygome decoded. Genet. Med. 12:765–771.
-
(2010)
Genet. Med.
, vol.12
, pp. 765-771
-
-
Alkuraya, F.S.1
-
29
-
-
77951435275
-
Homozygosity mapping: One more tool in the clinical geneticist’s toolbox
-
Alkuraya, F. S. 2010b. Homozygosity mapping: one more tool in the clinical geneticist’s toolbox. Genet. Med. 12:236–239.
-
(2010)
Genet. Med.
, vol.12
, pp. 236-239
-
-
Alkuraya, F.S.1
-
30
-
-
84881611807
-
Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: The Saudi experience
-
Alkuraya, F. 2013a. Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience. Clin. Genet. 84:203–208.
-
(2013)
Clin. Genet
, vol.84
, pp. 203-208
-
-
Alkuraya, F.1
-
31
-
-
84888376335
-
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases
-
Alkuraya, F. S. 2013b. The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum. Genet. 132:1197–1211.
-
(2013)
Hum. Genet.
, vol.132
, pp. 1197-1211
-
-
Alkuraya, F.S.1
-
32
-
-
0034927337
-
Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa)
-
Alkuraya, F. S., and R. A. Kilani. 2001. Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa). Prenat. Diagn. 21:448–451.
-
(2001)
Prenat. Diagn.
, vol.21
, pp. 448-451
-
-
Alkuraya, F.S.1
Kilani, R.A.2
-
33
-
-
84863775364
-
5-Oxoprolinase deficiency: Report of the first human OPLAH mutation
-
Almaghlouth, I., J. Mohamed, M. Al-Amoudi, L. Al-Ahaidib, A. Al-Odaib, and F. Alkuraya. 2012. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. Clin. Genet. 82:193–196.
-
(2012)
Clin. Genet.
, vol.82
, pp. 193-196
-
-
Almaghlouth, I.1
Mohamed, J.2
Al-Amoudi, M.3
Al-Ahaidib, L.4
Al-Odaib, A.5
Alkuraya, F.6
-
34
-
-
82255192363
-
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
-
Al-Mayouf, S. M., A. Sunker, R. Abdwani, S. Al Abrawi, F. Almurshedi, N. Alhashmi, et al. 2011. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat. Genet. 43:1186–1188.
-
(2011)
Nat. Genet.
, vol.43
, pp. 1186-1188
-
-
Al-Mayouf, S.M.1
Sunker, A.2
Abdwani, R.3
Al Abrawi, S.4
Almurshedi, F.5
Alhashmi, N.6
-
35
-
-
80053529552
-
An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
-
Al-Owain, M., A. Alazami, and F. Alkuraya. 2011. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. Clin. Genet. 80:489–492.
-
(2011)
Clin. Genet.
, vol.80
, pp. 489-492
-
-
Al-Owain, M.1
Alazami, A.2
Alkuraya, F.3
-
36
-
-
84866497203
-
Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions
-
Al-Owain, M., H. Al-Zaidan, and Z. Al-Hassnan. 2012. Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions. Am. J. Med. Genet. A 158A:2629–2640.
-
(2012)
Am. J. Med. Genet. A
, vol.158A
, pp. 2629-2640
-
-
Al-Owain, M.1
Al-Zaidan, H.2
Al-Hassnan, Z.3
-
37
-
-
84890177229
-
Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22. 3
-
Al-Qahtani, A., H. G. Khalak, F. S. Alkuraya, W. Al-hamoudy, K. Alswat, M. A. Al Balwi, et al. 2013. Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22. 3. J. Med. Genet. 50:725–732.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 725-732
-
-
Al-Qahtani, A.1
Khalak, H.G.2
Alkuraya, F.S.3
Al-Hamoudy, W.4
Alswat, K.5
Al Balwi, M.A.6
-
38
-
-
84864306835
-
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve– Melchior–Clausen locus
-
Alshammari, M. J., L. Al-Otaibi, and F. S. Alkuraya. 2012. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve– Melchior–Clausen locus. J. Med. Genet. 49:455–461.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 455-461
-
-
Alshammari, M.J.1
Al-Otaibi, L.2
Alkuraya, F.S.3
-
39
-
-
84892910467
-
MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK-and B-cell counts
-
Alsultan, A., H. E. Shamseldin, M. E. Osman, M. Aljabri, and F. S. Alkuraya. 2013. MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK-and B-cell counts. Blood 122:3844–3845.
-
(2013)
Blood
, vol.122
, pp. 3844-3845
-
-
Alsultan, A.1
Shamseldin, H.E.2
Osman, M.E.3
Aljabri, M.4
Alkuraya, F.S.5
-
40
-
-
84877904456
-
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis
-
Awad, S., M. S. Al-Dosari, N. AlYacoub, D. Colak, M. A. Salih, F. S. Alkuraya, et al. 2013. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum. Mol. Genet. 22:2200–2213.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2200-2213
-
-
Awad, S.1
Al-Dosari, M.S.2
Alyacoub, N.3
Colak, D.4
Salih, M.A.5
Alkuraya, F.S.6
-
41
-
-
41149150905
-
Regional variations in the prevalence of consanguinity in Saudi Arabia
-
El-Mouzan, M. I., A. A. Al-Salloum, A. S. Al-Herbish, M. M. Qurachi, and A. A. Al-Omar. 2007. Regional variations in the prevalence of consanguinity in Saudi Arabia. Saudi Med. J. 28:1881–1884.
-
(2007)
Saudi Med. J.
, vol.28
, pp. 1881-1884
-
-
El-Mouzan, M.I.1
Al-Salloum, A.A.2
Al-Herbish, A.S.3
Qurachi, M.M.4
Al-Omar, A.A.5
-
42
-
-
84894327119
-
WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype
-
Faqeih, E., R. Shaheen, and F. S. Alkuraya. 2013. WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype. J. Med. Genet. 50:491–492.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 491-492
-
-
Faqeih, E.1
Shaheen, R.2
Alkuraya, F.S.3
-
43
-
-
84883780647
-
Mutations in FBXL4 encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
-
Gai, X., D. Ghezzi, M. A. Johnson, C. A. Biagosch, H. E. Shamseldin, T. B. Haack, et al. 2013. Mutations in FBXL4 encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93:482–495.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 482-495
-
-
Gai, X.1
Ghezzi, D.2
Johnson, M.A.3
Biagosch, C.A.4
Shamseldin, H.E.5
Haack, T.B.6
-
44
-
-
84890264637
-
Identification of KLHL41 mutations implicates BTB-Kelch-Mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
-
Gupta, V. A., G. Ravenscroft, R. Shaheen, E. J. Todd, L. C. Swanson, M. Shiina, et al. 2013. Identification of KLHL41 mutations implicates BTB-Kelch-Mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am. J. Hum. Genet. 93:1108–1117.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 1108-1117
-
-
Gupta, V.A.1
Ravenscroft, G.2
Shaheen, R.3
Todd, E.J.4
Swanson, L.C.5
Shiina, M.6
-
45
-
-
85063922478
-
Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit
-
in press
-
Hijazi, H., M. A. Salih, M. H. Hamad, H. H. Hassan, S. B. Salih, K. A. Mohamed, et al. 2013. Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. Clin. Genet. in press.
-
(2013)
Clin. Genet.
-
-
Hijazi, H.1
Salih, M.A.2
Hamad, M.H.3
Hassan, H.H.4
Salih, S.B.5
Mohamed, K.A.6
-
46
-
-
84900454872
-
The hunt for missing genes
-
Kaiser, J. 2014. The hunt for missing genes. Science 344: 687–689.
-
(2014)
Science
, vol.344
, pp. 687-689
-
-
Kaiser, J.1
-
47
-
-
84907272570
-
Global, regional, and national levels and causes of maternal mortality during 1990–2013: A systematic analysis for the Global Burden of Disease Study 2013
-
in press
-
Kassebaum, N. J., A. Bertozzi-Villa, M. S. Coggeshall, K. A. Shackelford, C. Steiner, K. R. Heuton, et al. 2014. Global, regional, and national levels and causes of maternal mortality during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013. The Lancet in press.
-
(2014)
The Lancet
-
-
Kassebaum, N.J.1
Bertozzi-Villa, A.2
Coggeshall, M.S.3
Shackelford, K.A.4
Steiner, C.5
Heuton, K.R.6
-
48
-
-
79956211661
-
GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening
-
Kaya, N., M. A. Owain, N. AbuDheim, J. A. Zahrani, D. Colak, M. A. Sayed, et al. 2011. GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. Am. J. Med. Genet. A 155:1281– 1284.
-
(2011)
Am. J. Med. Genet. A
, vol.155
, pp. 1281-1284
-
-
Kaya, N.1
Owain, M.A.2
Abudheim, N.3
Zahrani, J.A.4
Colak, D.5
Sayed, M.A.6
-
49
-
-
84861909739
-
Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity
-
Khalak, H. G., S. M. Wakil, F. Imtiaz, K. Ramzan, B. Baz, A. Almostafa, et al. 2012. Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity. Genet. Med. 14:515–519.
-
(2012)
Genet. Med.
, vol.14
, pp. 515-519
-
-
Khalak, H.G.1
Wakil, S.M.2
Imtiaz, F.3
Ramzan, K.4
Baz, B.5
Almostafa, A.6
-
50
-
-
33747132429
-
Biology of CCR5 and its role in HIV infection and treatment
-
Lederman, M. M., A. Penn-Nicholson, M. Cho, and D. Mosier. 2006. Biology of CCR5 and its role in HIV infection and treatment. JAMA 296:815–826.
-
(2006)
JAMA
, vol.296
, pp. 815-826
-
-
Lederman, M.M.1
Penn-Nicholson, A.2
Cho, M.3
Mosier, D.4
-
51
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt, J., M. H. Willemsen, B. W. van Bon, T. Kleefstra, H. G. Yntema, T. Kroes, et al. 2012. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367:1921–1929.
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 1921-1929
-
-
de Ligt, J.1
Willemsen, M.H.2
van Bon, B.W.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
-
52
-
-
79959277666
-
Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia
-
Memish, Z. A., and M. Y. Saeedi. 2011. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia. Ann. Saudi Med. 31:229.
-
(2011)
Ann. Saudi Med.
, vol.31
, pp. 229
-
-
Memish, Z.A.1
Saeedi, M.Y.2
-
53
-
-
84872283216
-
Mutations in MEOX1 encoding mesenchyme homeobox 1, cause klippel-feil anomaly
-
Mohamed, J. Y., E. Faqeih, A. Alsiddiky, M. J. Alshammari, N. A. Ibrahim, and F. S. Alkuraya. 2013. Mutations in MEOX1 encoding mesenchyme homeobox 1, cause klippel-feil anomaly. Am. J. Hum. Genet. 92:157–161.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 157-161
-
-
Mohamed, J.Y.1
Faqeih, E.2
Alsiddiky, A.3
Alshammari, M.J.4
Ibrahim, N.A.5
Alkuraya, F.S.6
-
54
-
-
84906226932
-
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
-
in press
-
Moltke, I., N. Grarup, M. E. Jørgensen, P. Bjerregaard, J. T. Treebak, M. Fumagalli, et al. 2014. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature in press.
-
(2014)
Nature
-
-
Moltke, I.1
Grarup, N.2
Jørgensen, M.E.3
Bjerregaard, P.4
Treebak, J.T.5
Fumagalli, M.6
-
55
-
-
71849096809
-
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
-
Morales, J., L. Al-Sharif, D. S. Khalil, J. Shinwari, P. Bavi, R. A. Al-Mahrouqi, et al. 2009. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am. J. Hum. Genet. 85:558–568.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 558-568
-
-
Morales, J.1
Al-Sharif, L.2
Khalil, D.S.3
Shinwari, J.4
Bavi, P.5
Al-Mahrouqi, R.A.6
-
56
-
-
39749145196
-
Translating molecular discoveries into new therapies for atherosclerosis
-
Rader, D. J., and A. Daugherty. 2008. Translating molecular discoveries into new therapies for atherosclerosis. Nature 451:904–913.
-
(2008)
Nature
, vol.451
, pp. 904-913
-
-
Rader, D.J.1
Daugherty, A.2
-
57
-
-
84990689305
-
Electrospray tandem mass spectrometry in the diagnosis of organic acidemias
-
Rashed, M., P. Ozand, M. Harrison, P. Watkins, S. Evans, and T. A. Baillie. 1994. Electrospray tandem mass spectrometry in the diagnosis of organic acidemias. Rapid Commun. Mass Spectrom. 8:129–133.
-
(1994)
Rapid Commun. Mass Spectrom.
, vol.8
, pp. 129-133
-
-
Rashed, M.1
Ozand, P.2
Harrison, M.3
Watkins, P.4
Evans, S.5
Baillie, T.A.6
-
58
-
-
0029121111
-
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
-
Rashed, M. S., P. T. Ozand, M. P. Bucknall, and D. Little. 1995. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatric Res. 38:324–331.
-
(1995)
Pediatric Res
, vol.38
, pp. 324-331
-
-
Rashed, M.S.1
Ozand, P.T.2
Bucknall, M.P.3
Little, D.4
-
59
-
-
0030751763
-
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
-
Rashed, M. S., M. P. Bucknall, D. Little, A. Awad, M. Jacob, M. Alamoudi, et al. 1997. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin. Chem. 43:1129–1141.
-
(1997)
Clin. Chem.
, vol.43
, pp. 1129-1141
-
-
Rashed, M.S.1
Bucknall, M.P.2
Little, D.3
Awad, A.4
Jacob, M.5
Alamoudi, M.6
-
61
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch, A., D. Wieczorek, E. Graf, T. Wieland, S. Endele, T. Schwarzmayr, et al. 2012. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380: 1674–1682.
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
Wieland, T.4
Endele, S.5
Schwarzmayr, T.6
-
62
-
-
84902342545
-
METTL23, a transcriptional partner of GABPA, is essential for human cognition
-
Reiff, R. E., B. R. Ali, B. Baron, W. Y. Timothy, S. Ben-Salem, M. E. Coulter, et al. 2014. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum. Mol. Genet. 23:3456–3466.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 3456-3466
-
-
Reiff, R.E.1
Ali, B.R.2
Baron, B.3
Timothy, W.Y.4
Ben-Salem, S.5
Coulter, M.E.6
-
63
-
-
79952186905
-
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
-
Rooryck, C., A. Diaz-Font, D. P. Osborn, E. Chabchoub, V. Hernandez-Hernandez, H. Shamseldin, et al. 2011. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat. Genet. 43:197–203.
-
(2011)
Nat. Genet.
, vol.43
, pp. 197-203
-
-
Rooryck, C.1
Diaz-Font, A.2
Osborn, D.P.3
Chabchoub, E.4
Hernandez-Hernandez, V.5
Shamseldin, H.6
-
64
-
-
0025963366
-
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features
-
Sanjad, S., N. Sakati, Y. Abu-Osba, R. Kaddoura, and R. Milner. 1991. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch. Dis. Child. 66:193–196.
-
(1991)
Arch. Dis. Child.
, vol.66
, pp. 193-196
-
-
Sanjad, S.1
Sakati, N.2
Abu-Osba, Y.3
Kaddoura, R.4
Milner, R.5
-
65
-
-
84867835132
-
A novel syndrome of lethal familial hyperekplexia associated with brain malformation
-
Seidahmed, M. Z., M. A. Salih, O. B. Abdulbasit, M. Shaheed, K. Al Hussein, A. M. Miqdad, et al. 2012. A novel syndrome of lethal familial hyperekplexia associated with brain malformation. BMC Neurol. 12:125.
-
(2012)
BMC Neurol
, vol.12
, pp. 125
-
-
Seidahmed, M.Z.1
Salih, M.A.2
Abdulbasit, O.B.3
Shaheed, M.4
Al Hussein, K.5
Miqdad, A.M.6
-
66
-
-
77955567275
-
FKBP10 and Bruck syndrome: Phenotypic heterogeneity or call for reclassification?
-
Shaheen, R., M. Al-Owain, N. Sakati, Z. S. Alzayed, and F. S. Alkuraya. 2010. FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? Am. J. Hum. Genet. 87:306.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 306
-
-
Shaheen, R.1
Al-Owain, M.2
Sakati, N.3
Alzayed, Z.S.4
Alkuraya, F.S.5
-
67
-
-
80051666679
-
Recessive mutations in DOCK6 encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and adams-oliver syndrome
-
Shaheen, R., E. Faqeih, A. Sunker, H. Morsy, T. Al-Sheddi, H. E. Shamseldin, et al. 2011a. Recessive mutations in DOCK6 encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and adams-oliver syndrome. Am. J. Hum. Genet. 89:328– 333.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 328-333
-
-
Shaheen, R.1
Faqeih, E.2
Sunker, A.3
Morsy, H.4
Al-Sheddi, T.5
Shamseldin, H.E.6
-
68
-
-
79957622466
-
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
-
Shaheen, R., E. Faqeih, M. Z. Seidahmed, A. Sunker, F. E. Alali, A. Khadijah, et al. 2011b. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum. Mutat. 32:573–578.
-
(2011)
Hum. Mutat.
, vol.32
, pp. 573-578
-
-
Shaheen, R.1
Faqeih, E.2
Seidahmed, M.Z.3
Sunker, A.4
Alali, F.E.5
Khadijah, A.6
-
69
-
-
84879414293
-
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
-
Shaheen, R., E. Faqeih, M. J. Alshammari, A. Swaid, L. Al-Gazali, E. Mardawi, et al. 2012a. Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur. J. Hum. Genet. 21:762–768.
-
(2012)
Eur. J. Hum. Genet.
, vol.21
, pp. 762-768
-
-
Shaheen, R.1
Faqeih, E.2
Alshammari, M.J.3
Swaid, A.4
Al-Gazali, L.5
Mardawi, E.6
-
70
-
-
84864920718
-
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism
-
Shaheen, R., E. Faqeih, H. E. Shamseldin, R. R. Noche, A. Sunker, M. J. Alshammari, et al. 2012b. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am. J. Hum. Genet. 91:330–336.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 330-336
-
-
Shaheen, R.1
Faqeih, E.2
Shamseldin, H.E.3
Noche, R.R.4
Sunker, A.5
Alshammari, M.J.6
-
71
-
-
84870467220
-
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
-
Shaheen, R., A. M. Alazami, M. J. Alshammari, E. Faqeih, N. Alhashmi, N. Mousa, et al. 2012c. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J. Med. Genet. 49:630–635.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 630-635
-
-
Shaheen, R.1
Alazami, A.M.2
Alshammari, M.J.3
Faqeih, E.4
Alhashmi, N.5
Mousa, N.6
-
72
-
-
84883197530
-
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency
-
Shaheen, R., S. Ansari, M. J. Alshammari, H. Alkhalidi, H. Alrukban, W. Eyaid, et al. 2013a. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J. Med. Genet. 50:431–436.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 431-436
-
-
Shaheen, R.1
Ansari, S.2
Alshammari, M.J.3
Alkhalidi, H.4
Alrukban, H.5
Eyaid, W.6
-
73
-
-
84875917005
-
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive adams-oliver syndrome
-
Shaheen, R., M. Aglan, K. Keppler-Noreuil, E. Faqeih, S. Ansari, K. Horton, et al. 2013b. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive adams-oliver syndrome. Am. J. Hum. Genet. 92:598–604.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 598-604
-
-
Shaheen, R.1
Aglan, M.2
Keppler-Noreuil, K.3
Faqeih, E.4
Ansari, S.5
Horton, K.6
-
74
-
-
84874771371
-
Mutations in TMEM231 cause Meckel–Gruber syndrome
-
Shaheen, R., S. Ansari, E. A. Mardawi, M. J. Alshammari, and F. S. Alkuraya. 2013c. Mutations in TMEM231 cause Meckel–Gruber syndrome. J. Med. Genet. 50:160–162.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 160-162
-
-
Shaheen, R.1
Ansari, S.2
Mardawi, E.A.3
Alshammari, M.J.4
Alkuraya, F.S.5
-
75
-
-
84893674890
-
Genomic analysis of primordial dwarfism reveals novel disease genes
-
Shaheen, R., E. Faqeih, S. Ansari, G. Abdel-Salam, Z. N. Al-Hassnan, T. Al-Shidi, et al. 2014a. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 24:291–299.
-
(2014)
Genome Res
, vol.24
, pp. 291-299
-
-
Shaheen, R.1
Faqeih, E.2
Ansari, S.3
Abdel-Salam, G.4
Al-Hassnan, Z.N.5
Al-Shidi, T.6
-
76
-
-
84891834165
-
Mutations in CSPP1 encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans
-
Shaheen, R., H. E. Shamseldin, C. M. Loucks, M. Z. Seidahmed, S. Ansari, M. Ibrahim Khalil, et al. 2014b. Mutations in CSPP1 encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am. J. Hum. Genet. 94:73–79.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 73-79
-
-
Shaheen, R.1
Shamseldin, H.E.2
Loucks, C.M.3
Seidahmed, M.Z.4
Ansari, S.5
Ibrahim Khalil, M.6
-
77
-
-
84902260965
-
Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH
-
Shaheen, R., Z. Rahbeeni, A. Alhashem, E. Faqeih, Q. Zhao, Y. Xiong, et al. 2014c. Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH. The American Journal of Human Genetics 94:898–904.
-
(2014)
The American Journal of Human Genetics
, vol.94
, pp. 898-904
-
-
Shaheen, R.1
Rahbeeni, Z.2
Alhashem, A.3
Faqeih, E.4
Zhao, Q.5
Xiong, Y.6
-
78
-
-
84864112680
-
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
-
Shamseldin, H. E., M. Alshammari, T. Al-Sheddi, M. A. Salih, H. Alkhalidi, A. Kentab, et al. 2012a. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J. Med. Genet. 49:234–241.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 234-241
-
-
Shamseldin, H.E.1
Alshammari, M.2
Al-Sheddi, T.3
Salih, M.A.4
Alkhalidi, H.5
Kentab, A.6
-
79
-
-
84859484153
-
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
-
Shamseldin, H. E., M. Elfaki, and F. S. Alkuraya. 2012b. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J. Med. Genet. 49:184–186.
-
(2012)
J. Med. Genet
, vol.49
, pp. 184-186
-
-
Shamseldin, H.E.1
Elfaki, M.2
Alkuraya, F.S.3
-
80
-
-
84883782471
-
Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
-
Shamseldin, H. E., A. Rajab, A. Alhashem, R. Shaheen, T. Al-Shidi, R. Alamro, et al. 2013. Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome. Am. J. Hum. Genet. 93:555–560.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 555-560
-
-
Shamseldin, H.E.1
Rajab, A.2
Alhashem, A.3
Shaheen, R.4
Al-Shidi, T.5
Alamro, R.6
-
81
-
-
84870347057
-
Identification of MRI1 encoding translation initiation factor eIF-2B subunit alpha/ beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain
-
Sunker, A., and F. S. Alkuraya. 2013. Identification of MRI1 encoding translation initiation factor eIF-2B subunit alpha/ beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain. Gene 512:450–452.
-
(2013)
Gene
, vol.512
, pp. 450-452
-
-
Sunker, A.1
Alkuraya, F.S.2
-
82
-
-
84904972811
-
Global, regional, and national levels of neonatal, infant, and under-5 mortality during 1990–2013: A systematic analysis for the Global Burden of Disease Study 2013
-
in press
-
Wang, H., C. A. Liddell, M. M. Coates, M. D. Mooney, C. E. Levitz, A. E. Schumacher, et al. 2014. Global, regional, and national levels of neonatal, infant, and under-5 mortality during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013. The Lancet in press.
-
(2014)
The Lancet
-
-
Wang, H.1
Liddell, C.A.2
Coates, M.M.3
Mooney, M.D.4
Levitz, C.E.5
Schumacher, A.E.6
-
83
-
-
84902317998
-
Is consanguinity prevalence decreasing in Saudis? A study in two generations
-
Warsy, A., M. Al-Jaser, A. Albdass, S. Al-Daihan, and M. Alanazi. 2014. Is consanguinity prevalence decreasing in Saudis? A study in two generations. Afr. Health Sci. 14:314–321.
-
(2014)
Afr. Health Sci.
, vol.14
, pp. 314-321
-
-
Warsy, A.1
Al-Jaser, M.2
Albdass, A.3
Al-Daihan, S.4
Alanazi, M.5
-
84
-
-
84884849882
-
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
-
Webb, E. A., A. AlMutair, D. Kelberman, C. Bacchelli, E. Chanudet, F. Lescai, et al. 2013. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain 136:3096–3105.
-
(2013)
Brain
, vol.136
, pp. 3096-3105
-
-
Webb, E.A.1
Almutair, A.2
Kelberman, D.3
Bacchelli, C.4
Chanudet, E.5
Lescai, F.6
-
85
-
-
84876410451
-
Mutations in C12orf57 cause a syndromic form of colobomatous microphthalmia
-
Zahrani, F., M. A. Aldahmesh, M. J. Alshammari, S. A. Al-Hazzaa, and F. S. Alkuraya. 2013. Mutations in C12orf57 cause a syndromic form of colobomatous microphthalmia. Am. J. Hum. Genet. 92:387–391.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 387-391
-
-
Zahrani, F.1
Aldahmesh, M.A.2
Alshammari, M.J.3
Al-Hazzaa, S.A.4
Alkuraya, F.S.5
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