Detalhe da pesquisa
1.
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
PLoS Genet
; 15(8): e1008315, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425546
2.
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Hum Mutat
; 42(3): 261-271, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300174
3.
The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Orphanet J Rare Dis
; 19(1): 151, 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38594754
4.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS Nexus
; 2(3): pgad043, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909829
5.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Nat Commun
; 12(1): 518, 2021 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483490
6.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188062
7.
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.
Ophthalmic Genet
; 43(4): 576-580, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903041