Detalhe da pesquisa
1.
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
Am J Med Genet A
; 188(3): 948-952, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821467
2.
A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.
Graefes Arch Clin Exp Ophthalmol
; 260(2): 645-653, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427740
3.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
4.
CEP78 is mutated in a distinct type of Usher syndrome.
J Med Genet
; 54(3): 190-195, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27627988
5.
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Hum Mutat
; 38(11): 1521-1533, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714225
6.
A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
Sci Rep
; 8(1): 2398, 2018 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29402928
7.
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
Ophthalmic Genet
; 39(5): 569-576, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29952689
8.
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.
Sci Rep
; 7: 33713, 2017 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28211458
9.
The phenotypic variability of HK1-associated retinal dystrophy.
Sci Rep
; 7(1): 7051, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28765615