-
1
-
-
0027537949
-
Retinitis pigmentosa. The Friedenwald Lecture
-
Berson EL, ((1993)) Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 34:: 1659--1676.
-
(1993)
Invest Ophthalmol Vis Sci
, vol.34
, pp. 1659-1676
-
-
Berson, E.L.1
-
2
-
-
84872830063
-
-
RetNet website. http://www.sph.uth.tmc.edu/RetNet/disease.htm. Accessed 2012 Feb 9.
-
-
-
-
3
-
-
34247897112
-
Cone rod dystrophies
-
Hamel CP, ((2007)) Cone rod dystrophies. Orphanet J Rare Dis 2:: 7.
-
(2007)
Orphanet J Rare Dis
, vol.2
, pp. 7
-
-
Hamel, C.P.1
-
5
-
-
84872830399
-
-
Coriell Institute website. http://ccr.coriell.org/Sections/Support/NIGMS/IRBFAQ.aspx?PgId=524. Accessed 2012 July 5.
-
-
-
-
6
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, et al. ((2010)) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327:: 78--81.
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
-
7
-
-
34347225615
-
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
-
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, et al. ((2007)) CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet 81:: 104--113.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 104-113
-
-
Brancati, F.1
Barrano, G.2
Silhavy, J.L.3
Marsh, S.E.4
Travaglini, L.5
-
8
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Altshuler D, Durbin R, Abecasis G, Bentley D, Chakravarti A, et al. ((2010)) A map of human genome variation from population-scale sequencing. Nature 467:: 1061--1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Altshuler, D.1
Durbin, R.2
Abecasis, G.3
Bentley, D.4
Chakravarti, A.5
-
9
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, et al. ((2010)) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:: 1181--1191.
-
(2010)
N Engl J Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
-
10
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, et al. ((2008)) The complete genome of an individual by massively parallel DNA sequencing. Nature 452:: 872--876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
-
11
-
-
0037095736
-
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
-
Rivolta C, Sharon D, DeAngelis MM, Dryja TP, ((2002)) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 11:: 1219--1227.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1219-1227
-
-
Rivolta, C.1
Sharon, D.2
DeAngelis, M.M.3
Dryja, T.P.4
-
12
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, et al. ((2009)) The Human Gene Mutation Database: 2008 update. Genome Med 1:: 13.
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
-
13
-
-
77950112827
-
Prevalence and causes of severe visual impairment and blindness among children in the lorestan province of iran, using the key informant method
-
Razavi H, Kuper H, Rezvan F, Amelie K, Mahboobi-Pur H, et al. ((2010)) Prevalence and causes of severe visual impairment and blindness among children in the lorestan province of iran, using the key informant method. Ophthalmic Epidemiol 17:: 95--102.
-
(2010)
Ophthalmic Epidemiol
, vol.17
, pp. 95-102
-
-
Razavi, H.1
Kuper, H.2
Rezvan, F.3
Amelie, K.4
Mahboobi-Pur, H.5
-
14
-
-
0022052331
-
Changing pattern of childhood blindness in Saudi Arabia
-
Tabbara KF, Badr IA, ((1985)) Changing pattern of childhood blindness in Saudi Arabia. Br J Ophthalmol 69:: 312--315.
-
(1985)
Br J Ophthalmol
, vol.69
, pp. 312-315
-
-
Tabbara, K.F.1
Badr, I.A.2
-
16
-
-
0027185949
-
Childhood blindness in the West Bank and Gaza Strip: prevalence, aetiology and hereditary factors
-
Elder MJ, De Cock R, ((1993)) Childhood blindness in the West Bank and Gaza Strip: prevalence, aetiology and hereditary factors. Eye (Lond) 7 (Pt 4):: 580--583.
-
(1993)
Eye (Lond)
, vol.7
, Issue.Pt 4
, pp. 580-583
-
-
Elder, M.J.1
de Cock, R.2
-
17
-
-
0034866964
-
Consanguinity and its relevance to clinical genetics
-
Bittles A, ((2001)) Consanguinity and its relevance to clinical genetics. Clin Genet 60:: 89--98.
-
(2001)
Clin Genet
, vol.60
, pp. 89-98
-
-
Bittles, A.1
|