-
1
-
-
84923199057
-
Community Genetics Services: Report of a WHO Consultation on Community Genetics in Low- and Middle-Income Countries Geneva.
-
World Health Organization
-
World Health Organization Community Genetics Services: Report of a WHO Consultation on Community Genetics in Low- and Middle-Income Countries Geneva. 2011, World Health Organization.
-
(2011)
-
-
-
2
-
-
0037228320
-
Recommendations for introducing genetics services in developing countries.
-
Alwan A, Modell B. Recommendations for introducing genetics services in developing countries. Nat Rev Genet 2003, 4:61-68.
-
(2003)
Nat Rev Genet
, vol.4
, pp. 61-68
-
-
Alwan, A.1
Modell, B.2
-
4
-
-
84859313068
-
-
Washington, Institute of Medicine
-
Institute of Medicine Rare Diseases and Orphan Products: Accelerating Research and Development 2010, Washington, Institute of Medicine., http://www.iom.edu/Reports/2010/Rare-Diseases-and-Orphan-Products-Accelerating-Research-and-Development.aspx
-
(2010)
Rare Diseases and Orphan Products: Accelerating Research and Development
-
-
-
5
-
-
38349033336
-
Sickle cell disease and pulmonary hypertension in Africa: a global perspective and review of epidemiology, pathophysiology, and management.
-
10.1002/ajh.21057, 17910044
-
Aliyu ZY, Kato GJ, Taylor J 6, Babadoko A, Mamman AI, Gordeuk VR, Gladwin MT. Sickle cell disease and pulmonary hypertension in Africa: a global perspective and review of epidemiology, pathophysiology, and management. Am J Hematol 2008, 83:63-70. 10.1002/ajh.21057, 17910044.
-
(2008)
Am J Hematol
, vol.83
, pp. 63-70
-
-
Aliyu, Z.Y.1
Kato, G.J.2
Taylor J, 6.3
Babadoko, A.4
Mamman, A.I.5
Gordeuk, V.R.6
Gladwin, M.T.7
-
6
-
-
44949128064
-
Global epidemiology of haemoglobin disorders and derived service indicators.
-
2647473, 18568278
-
Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008, 86:480-487. 2647473, 18568278.
-
(2008)
Bull World Health Organ
, vol.86
, pp. 480-487
-
-
Modell, B.1
Darlison, M.2
-
7
-
-
58149134518
-
Prevalence of glucose-6-phosphate dehydrogenase deficiency and haemoglobin S in high and moderate malaria transmission areas of Muheza, north-eastern Tanzania.
-
Segeja MD, Mmbando BP, Kamugisha ML, Akida JA, Savaeli ZX, Minja DT, Msangeni HA, Lemnge MM. Prevalence of glucose-6-phosphate dehydrogenase deficiency and haemoglobin S in high and moderate malaria transmission areas of Muheza, north-eastern Tanzania. Tanzan J Health Res 2008, 10:9-13.
-
(2008)
Tanzan J Health Res
, vol.10
, pp. 9-13
-
-
Segeja, M.D.1
Mmbando, B.P.2
Kamugisha, M.L.3
Akida, J.A.4
Savaeli, Z.X.5
Minja, D.T.6
Msangeni, H.A.7
Lemnge, M.M.8
-
8
-
-
33749258721
-
'Rakter dosh' - corrupting blood: The challenges of preventing thalassemia in Bengal, India.
-
10.1016/j.socscimed.2006.06.031, 16901596
-
Chattopadhyay S. 'Rakter dosh' - corrupting blood: The challenges of preventing thalassemia in Bengal, India. Soc Sci Med 2006, 63:2661-2673. 10.1016/j.socscimed.2006.06.031, 16901596.
-
(2006)
Soc Sci Med
, vol.63
, pp. 2661-2673
-
-
Chattopadhyay, S.1
-
9
-
-
67049116457
-
Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success.
-
10.1258/jms.2008.008029, 19349527
-
Alswaidi FM, O'Brien SJ. Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success. J Med Screen 2009, 16:22-28. 10.1258/jms.2008.008029, 19349527.
-
(2009)
J Med Screen
, vol.16
, pp. 22-28
-
-
Alswaidi, F.M.1
O'Brien, S.J.2
-
10
-
-
68949212294
-
Population programs for the detection of couples at risk for severe monogenic genetic diseases.
-
10.1007/s00439-009-0669-y, 19390864
-
Zlotogora J. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 2009, 126:247-253. 10.1007/s00439-009-0669-y, 19390864.
-
(2009)
Hum Genet
, vol.126
, pp. 247-253
-
-
Zlotogora, J.1
-
11
-
-
33845754875
-
Jordan: communities and community genetics.
-
10.1159/000096282, 17167252
-
Hamamy H, Al-Hait S, Alwan A, Ajlouni K. Jordan: communities and community genetics. Community Genet 2007, 10:52-60. 10.1159/000096282, 17167252.
-
(2007)
Community Genet
, vol.10
, pp. 52-60
-
-
Hamamy, H.1
Al-Hait, S.2
Alwan, A.3
Ajlouni, K.4
-
12
-
-
0027360434
-
Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.
-
10.1001/jama.1993.03510190063028, 8230592
-
Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 1993, 270:2307-2315. 10.1001/jama.1993.03510190063028, 8230592.
-
(1993)
JAMA
, vol.270
, pp. 2307-2315
-
-
Kaback, M.1
Lim-Steele, J.2
Dabholkar, D.3
Brown, D.4
Levy, N.5
Zeiger, K.6
-
13
-
-
0034434840
-
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.
-
Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000, 159(Suppl 3):S192-195.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 3
-
-
Kaback, M.M.1
-
14
-
-
0035236420
-
The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease.
-
Ekstein J, Katzenstein H. The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease. Adv Genet 2001, 44:297-310.
-
(2001)
Adv Genet
, vol.44
, pp. 297-310
-
-
Ekstein, J.1
Katzenstein, H.2
-
15
-
-
78049307706
-
Summary of Population-based Carrier Screening for Single Gene Disorders: Lessons Learned and New Opportunities.
-
National Human Genome Research Institute
-
National Human Genome Research Institute Summary of Population-based Carrier Screening for Single Gene Disorders: Lessons Learned and New Opportunities. 2008, National Human Genome Research Institute., http://www.genome.gov/27026048#3
-
(2008)
-
-
-
16
-
-
33750303409
-
Genetic disease in the Arab world.
-
10.1136/bmj.39002.350405.80, 1618432, 17053218
-
Bayoumi RA, Yardumian A. Genetic disease in the Arab world. BMJ 2006, 333:819. 10.1136/bmj.39002.350405.80, 1618432, 17053218.
-
(2006)
BMJ
, vol.333
, pp. 819
-
-
Bayoumi, R.A.1
Yardumian, A.2
-
17
-
-
45849125808
-
Results of the national program for prevention of beta-thalassemia major in the Iranian Province of Mazandaran.
-
10.1080/03630260802004269, 18473242
-
Khorasani G, Kosaryan M, Vahidshahi K, Shakeri S, Nasehi MM. Results of the national program for prevention of beta-thalassemia major in the Iranian Province of Mazandaran. Hemoglobin 2008, 32:263-271. 10.1080/03630260802004269, 18473242.
-
(2008)
Hemoglobin
, vol.32
, pp. 263-271
-
-
Khorasani, G.1
Kosaryan, M.2
Vahidshahi, K.3
Shakeri, S.4
Nasehi, M.M.5
-
18
-
-
79959277666
-
Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and beta-thalassemia in Saudi Arabia.
-
10.4103/0256-4947.81527, 3119961, 21623050
-
Memish ZA, Saeedi MY. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and beta-thalassemia in Saudi Arabia. Ann Saudi Med 2011, 31:229-235. 10.4103/0256-4947.81527, 3119961, 21623050.
-
(2011)
Ann Saudi Med
, vol.31
, pp. 229-235
-
-
Memish, Z.A.1
Saeedi, M.Y.2
-
19
-
-
80052606841
-
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
-
10.1097/GIM.0b013e318217477f, 21555946
-
Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LP, Bennett RL, Shaw A, Megarbane A, van Duijn C, Bathija H, Fokstuen S, Engel E, Zlotogora J, Dermitzakis E, Bottani A, Dahoun S, Morris MA, Arsenault S, Aglan MS, Ajaz M, Alkalamchi A, Alnaqeb D, Alwasiyah MK, Anwer N, Awwad R, Bonnefin M, Corry P, Gwanmesia L, Karbani GA, et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med 2011, 13:841-847. 10.1097/GIM.0b013e318217477f, 21555946.
-
(2011)
Genet Med
, vol.13
, pp. 841-847
-
-
Hamamy, H.1
Antonarakis, S.E.2
Cavalli-Sforza, L.L.3
Temtamy, S.4
Romeo, G.5
Kate, L.P.6
Bennett, R.L.7
Shaw, A.8
Megarbane, A.9
van Duijn, C.10
Bathija, H.11
Fokstuen, S.12
Engel, E.13
Zlotogora, J.14
Dermitzakis, E.15
Bottani, A.16
Dahoun, S.17
Morris, M.A.18
Arsenault, S.19
Aglan, M.S.20
Ajaz, M.21
Alkalamchi, A.22
Alnaqeb, D.23
Alwasiyah, M.K.24
Anwer, N.25
Awwad, R.26
Bonnefin, M.27
Corry, P.28
Gwanmesia, L.29
Karbani, G.A.30
more..
-
20
-
-
77955285943
-
The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations.
-
10.1002/ajmg.a.33537, 20635393
-
Zlotogora J, Shalev SA. The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations. Am J Med Genet A 2010, 152A:2023-2028. 10.1002/ajmg.a.33537, 20635393.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2023-2028
-
-
Zlotogora, J.1
Shalev, S.A.2
-
21
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
-
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Science Transl Med 2011, 3:65ra4.
-
(2011)
Science Transl Med
, vol.3
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
Hateley, S.L.4
Ganusova, E.E.5
Mudge, J.6
Langley, R.J.7
Zhang, L.8
Lee, C.C.9
Schilkey, F.D.10
Sheth, V.11
Woodward, J.E.12
Peckham, H.E.13
Schroth, G.P.14
Kim, R.W.15
Kingsmore, S.F.16
-
22
-
-
33747591403
-
Newborn screening: toward a uniform screening panel and system.
-
3111605, 16783161
-
Watson MS L-PM, Mann MY, Rinaldo P, Howell RR. Newborn screening: toward a uniform screening panel and system. Genet Med 2006, 8(Suppl 1):1S-252S. 3111605, 16783161.
-
(2006)
Genet Med
, vol.8
, Issue.SUPPL. 1
-
-
Watson MS, L.-P.M.1
Mann, M.Y.2
Rinaldo, P.3
Howell, R.R.4
-
23
-
-
52149117343
-
Impact of Expanded Newborn Screening - United States, 2006.
-
Therrell B, Lorey F, Eaton R, Frazier D, Hoffman G, Boyle C, Green D, Devine O, Hannon H. Impact of Expanded Newborn Screening - United States, 2006. MMWR Morb Mortal Wkly Rep 2008, 57:1012-1015.
-
(2008)
MMWR Morb Mortal Wkly Rep
, vol.57
, pp. 1012-1015
-
-
Therrell, B.1
Lorey, F.2
Eaton, R.3
Frazier, D.4
Hoffman, G.5
Boyle, C.6
Green, D.7
Devine, O.8
Hannon, H.9
-
25
-
-
17144376448
-
United Arab Emirates National Newborn Screening Programme: an evaluation 1998-2000.
-
al-Hosani H, Salah M, Saade D, Osman H, al-Zahid J. United Arab Emirates National Newborn Screening Programme: an evaluation 1998-2000. East Mediterr Health J 2003, 9:324-332.
-
(2003)
East Mediterr Health J
, vol.9
, pp. 324-332
-
-
al-Hosani, H.1
Salah, M.2
Saade, D.3
Osman, H.4
al-Zahid, J.5
-
26
-
-
34548488230
-
Newborn screening: experiences in the Middle East and North Africa.
-
10.1007/s10545-007-0660-5, 17701444
-
Saadallah AA, Rashed MS. Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis 2007, 30:482-489. 10.1007/s10545-007-0660-5, 17701444.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 482-489
-
-
Saadallah, A.A.1
Rashed, M.S.2
-
28
-
-
84859109745
-
GeneTests: Medical Genetics Information Resource.
-
GeneTests: Medical Genetics Information Resource. , http://www.genetests.org
-
-
-
-
29
-
-
79959309141
-
Deep sequencing of patient genomes for disease diagnosis: when will it become routine?.
-
10.1126/scitranslmed.3002695, 21677196
-
Kingsmore SF, Saunders CJ. Deep sequencing of patient genomes for disease diagnosis: when will it become routine?. Sci Transl Med 2011, 3:87ps23. 10.1126/scitranslmed.3002695, 21677196.
-
(2011)
Sci Transl Med
, vol.3
-
-
Kingsmore, S.F.1
Saunders, C.J.2
-
30
-
-
80054958114
-
Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.
-
10.1586/erm.11.70, 22022947
-
Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev Mol Diagn 2011, 11:855-868. 10.1586/erm.11.70, 22022947.
-
(2011)
Expert Rev Mol Diagn
, vol.11
, pp. 855-868
-
-
Kingsmore, S.F.1
Dinwiddie, D.L.2
Miller, N.A.3
Soden, S.E.4
Saunders, C.J.5
-
31
-
-
33746383249
-
Beta-thalassemia: the Lebanese experience.
-
10.1111/j.1365-2257.2006.00792.x, 16898958
-
Inati A, Zeineh N, Isma'eel H, Koussa S, Gharzuddine W, Taher A. Beta-thalassemia: the Lebanese experience. Clin Lab Haematol 2006, 28:217-227. 10.1111/j.1365-2257.2006.00792.x, 16898958.
-
(2006)
Clin Lab Haematol
, vol.28
, pp. 217-227
-
-
Inati, A.1
Zeineh, N.2
Isma'eel, H.3
Koussa, S.4
Gharzuddine, W.5
Taher, A.6
-
32
-
-
77957031804
-
-
World Health Organization
-
World Health Organization Management of Haemoglobin Disorders World Health Organization., http://www.who.int/genomics/WHO-TIF_genetics_final.pdf
-
Management of Haemoglobin Disorders
-
-
-
33
-
-
0028289049
-
Hereditary disorders in the Eastern Mediterranean region.
-
2486500, 8131251
-
Hamamy H, Alwan A. Hereditary disorders in the Eastern Mediterranean region. Bull World Health Organ 1994, 72:145-154. 2486500, 8131251.
-
(1994)
Bull World Health Organ
, vol.72
, pp. 145-154
-
-
Hamamy, H.1
Alwan, A.2
-
34
-
-
55649083931
-
Survival and complications of beta-thalassemia in Lebanon: a decade's experience of centralized care.
-
10.1159/000171088, 19001806
-
Charafeddine K, Isma'eel H, Charafeddine M, Inati A, Koussa S, Naja M, Taher A. Survival and complications of beta-thalassemia in Lebanon: a decade's experience of centralized care. Acta Haematol 2008, 120:112-116. 10.1159/000171088, 19001806.
-
(2008)
Acta Haematol
, vol.120
, pp. 112-116
-
-
Charafeddine, K.1
Isma'eel, H.2
Charafeddine, M.3
Inati, A.4
Koussa, S.5
Naja, M.6
Taher, A.7
-
35
-
-
0032790732
-
Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening.
-
10.1034/j.1399-0004.1999.550618.x, 10450871
-
Frossard PM, Lestringant G, Girodon E, Goossens M, Dawson KP. Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening. Clin Genet 1999, 55:496-497. 10.1034/j.1399-0004.1999.550618.x, 10450871.
-
(1999)
Clin Genet
, vol.55
, pp. 496-497
-
-
Frossard, P.M.1
Lestringant, G.2
Girodon, E.3
Goossens, M.4
Dawson, K.P.5
-
36
-
-
41449084967
-
Outcomes, utilization, and costs among thalassemia and sickle cell disease patients receiving deferoxamine therapy in the United States.
-
10.1002/ajh.21049, 17924547
-
Delea TE, Hagiwara M, Thomas SK, Baladi JF, Phatak PD, Coates TD. Outcomes, utilization, and costs among thalassemia and sickle cell disease patients receiving deferoxamine therapy in the United States. Am J Hematol 2008, 83:263-270. 10.1002/ajh.21049, 17924547.
-
(2008)
Am J Hematol
, vol.83
, pp. 263-270
-
-
Delea, T.E.1
Hagiwara, M.2
Thomas, S.K.3
Baladi, J.F.4
Phatak, P.D.5
Coates, T.D.6
-
37
-
-
67549134944
-
Sickle cell anemia in northern Israel: screening and prevention.
-
Koren A, Zalman L, Palmor H, Zamir RB, Levin C, Openheim A, Daniel-Spiegel E, Shalev S, Filon D. Sickle cell anemia in northern Israel: screening and prevention. Isr Med Assoc J 2009, 11:229-234.
-
(2009)
Isr Med Assoc J
, vol.11
, pp. 229-234
-
-
Koren, A.1
Zalman, L.2
Palmor, H.3
Zamir, R.B.4
Levin, C.5
Openheim, A.6
Daniel-Spiegel, E.7
Shalev, S.8
Filon, D.9
-
38
-
-
78049300625
-
A universal carrier test for the long tail of Mendelian disease.
-
10.1016/j.rbmo.2010.05.012, 20729146
-
Srinivasan BS, Evans EA, Flannick J, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P. A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online 2010, 21:537-551. 10.1016/j.rbmo.2010.05.012, 20729146.
-
(2010)
Reprod Biomed Online
, vol.21
, pp. 537-551
-
-
Srinivasan, B.S.1
Evans, E.A.2
Flannick, J.3
Patterson, A.S.4
Chang, C.C.5
Pham, T.6
Young, S.7
Kaushal, A.8
Lee, J.9
Jacobson, J.L.10
Patrizio, P.11
-
41
-
-
40049101431
-
Genome-wide association studies: progress and potential for drug discovery and development.
-
10.1038/nrd2519, 2853477, 18274536
-
Kingsmore SF, Lindquist IE, Mudge J, Gessler DD, Beavis WD. Genome-wide association studies: progress and potential for drug discovery and development. Nat Rev Drug Discov 2008, 7:221-230. 10.1038/nrd2519, 2853477, 18274536.
-
(2008)
Nat Rev Drug Discov
, vol.7
, pp. 221-230
-
-
Kingsmore, S.F.1
Lindquist, I.E.2
Mudge, J.3
Gessler, D.D.4
Beavis, W.D.5
-
42
-
-
55449120805
-
Genetic mapping in human disease.
-
10.1126/science.1156409, 2694957, 18988837
-
Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science 2008, 322:881-888. 10.1126/science.1156409, 2694957, 18988837.
-
(2008)
Science
, vol.322
, pp. 881-888
-
-
Altshuler, D.1
Daly, M.J.2
Lander, E.S.3
-
43
-
-
77957968873
-
Genetics of early onset cognitive impairment.
-
10.1146/annurev-genom-082509-141640, 20822471
-
Ropers HH. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 2010, 11:161-187. 10.1146/annurev-genom-082509-141640, 20822471.
-
(2010)
Annu Rev Genomics Hum Genet
, vol.11
, pp. 161-187
-
-
Ropers, H.H.1
-
44
-
-
80053906761
-
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
-
10.1038/nature10423, 21937992
-
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011, 478:57-63. 10.1038/nature10423, 21937992.
-
(2011)
Nature
, vol.478
, pp. 57-63
-
-
Najmabadi, H.1
Hu, H.2
Garshasbi, M.3
Zemojtel, T.4
Abedini, S.S.5
Chen, W.6
Hosseini, M.7
Behjati, F.8
Haas, S.9
Jamali, P.10
Zecha, A.11
Mohseni, M.12
Püttmann, L.13
Vahid, L.N.14
Jensen, C.15
Moheb, L.A.16
Bienek, M.17
Larti, F.18
Mueller, I.19
Weissmann, R.20
Darvish, H.21
Wrogemann, K.22
Hadavi, V.23
Lipkowitz, B.24
Esmaeeli-Nieh, S.25
Wieczorek, D.26
Kariminejad, R.27
Firouzabadi, S.G.28
Cohen, M.29
Fattahi, Z.30
more..
-
45
-
-
22344434112
-
Prevention of thalassaemia and haemoglobinopathies in remote and isolated communities - the Maldives experience.
-
10.1080/03014460500074996, 16096208
-
Firdous N. Prevention of thalassaemia and haemoglobinopathies in remote and isolated communities - the Maldives experience. Ann Hum Biol 2005, 32:131-137. 10.1080/03014460500074996, 16096208.
-
(2005)
Ann Hum Biol
, vol.32
, pp. 131-137
-
-
Firdous, N.1
-
46
-
-
51349100398
-
The prevalence of cystic fibrosis in the European Union.
-
10.1016/j.jcf.2008.03.007, 18442953
-
Farrell PM. The prevalence of cystic fibrosis in the European Union. J Cyst Fibros 2008, 7:450-453. 10.1016/j.jcf.2008.03.007, 18442953.
-
(2008)
J Cyst Fibros
, vol.7
, pp. 450-453
-
-
Farrell, P.M.1
-
47
-
-
38349011394
-
Application of medical genetics in Turkey.
-
Tuncbilek E, Ozguc M. Application of medical genetics in Turkey. Turk J Pediatr 2007, 49:353-359.
-
(2007)
Turk J Pediatr
, vol.49
, pp. 353-359
-
-
Tuncbilek, E.1
Ozguc, M.2
-
48
-
-
77953691630
-
An up-date on the prevalence of sickle cell trait in Eastern and Western Uganda.
-
10.1186/1471-2326-10-5, 2905339, 20569434
-
Okwi AL, Byarugaba W, Ndugwa CM, Parkes A, Ocaido M, Tumwine JK. An up-date on the prevalence of sickle cell trait in Eastern and Western Uganda. BMC Blood Disord 2010, 10:5. 10.1186/1471-2326-10-5, 2905339, 20569434.
-
(2010)
BMC Blood Disord
, vol.10
, pp. 5
-
-
Okwi, A.L.1
Byarugaba, W.2
Ndugwa, C.M.3
Parkes, A.4
Ocaido, M.5
Tumwine, J.K.6
-
49
-
-
16744367337
-
[Incidence of spinal muscular atrophy and Duchenne's muscular dystrophy in the juvenile population of central Slovakia].
-
Kvasnicová M, Styková J, Hudec P. [Incidence of spinal muscular atrophy and Duchenne's muscular dystrophy in the juvenile population of central Slovakia]. Bratisl Lek Listy 1994, 95:78-82.
-
(1994)
Bratisl Lek Listy
, vol.95
, pp. 78-82
-
-
Kvasnicová, M.1
Styková, J.2
Hudec, P.3
-
50
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases - a world survey.
-
10.1016/0960-8966(91)90039-U, 1822774
-
Emery AE. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991, 1:19-29. 10.1016/0960-8966(91)90039-U, 1822774.
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 19-29
-
-
Emery, A.E.1
-
51
-
-
78751631879
-
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile × syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
-
10.1097/GIM.0b013e3181fa9fad, 21116185
-
Hantash FM, Goos DM, Crossley B, Anderson B, Zhang K, Sun W, Strom CM. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile × syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med 2011, 13:39-45. 10.1097/GIM.0b013e3181fa9fad, 21116185.
-
(2011)
Genet Med
, vol.13
, pp. 39-45
-
-
Hantash, F.M.1
Goos, D.M.2
Crossley, B.3
Anderson, B.4
Zhang, K.5
Sun, W.6
Strom, C.M.7
-
52
-
-
16544383932
-
Frequency of haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Basra.
-
Hassan MK, Taha JY, Al-Naama LM, Widad NM, Jasim SN. Frequency of haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Basra. East Mediterr Health J 2003, 9:45-54.
-
(2003)
East Mediterr Health J
, vol.9
, pp. 45-54
-
-
Hassan, M.K.1
Taha, J.Y.2
Al-Naama, L.M.3
Widad, N.M.4
Jasim, S.N.5
-
53
-
-
73949126440
-
A study of variations in the reported haemophilia A prevalence around the world.
-
Stonebraker JS, Bolton-Maggs PH, Soucie JM, Walker I, Brooker M. A study of variations in the reported haemophilia A prevalence around the world. Haemophilia 2010, 16:20-32.
-
(2010)
Haemophilia
, vol.16
, pp. 20-32
-
-
Stonebraker, J.S.1
Bolton-Maggs, P.H.2
Soucie, J.M.3
Walker, I.4
Brooker, M.5
-
54
-
-
84859099798
-
Online Mendelian Inheritence in Man.
-
Online Mendelian Inheritence in Man. , http://www.ncbi.nlm.nih.gov/omim
-
-
-
-
55
-
-
68149165615
-
Genetic clinics in Arab communities: meeting individual, family and community needs.
-
Hamamy H, Bittles AH. Genetic clinics in Arab communities: meeting individual, family and community needs. Public Health Genomics 2009, 12:30-40.
-
(2009)
Public Health Genomics
, vol.12
, pp. 30-40
-
-
Hamamy, H.1
Bittles, A.H.2
|