Detalhe da pesquisa
1.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946133
2.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
JCI Insight
; 7(5)2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138268
3.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
J Clin Invest
; 131(24)2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34730112
4.
The genetic landscape of crystallins in congenital cataract.
Orphanet J Rare Dis
; 15(1): 333, 2020 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33243271
5.
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
J Clin Endocrinol Metab
; 104(12): 5737-5750, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504653
6.
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Invest Ophthalmol Vis Sci
; 53(7): 3927-38, 2012 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570351
7.
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Invest Ophthalmol Vis Sci
; 52(6): 3032-8, 2011 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310915