Detalhe da pesquisa
1.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999394
2.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Am J Hum Genet
; 99(2): 470-80, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486781
3.
Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
PLoS Genet
; 10(7): e1004508, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25078964
4.
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
Mol Vis
; 20: 843-51, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24959063
5.
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Front Cell Dev Biol
; 9: 664317, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33968938