Detalhe da pesquisa
1.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37815931
2.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32658972
3.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Int J Mol Sci
; 22(24)2021 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948090
4.
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
Eur J Hum Genet
; 31(7): 834-840, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173411
5.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
J Clin Invest
; 133(8)2023 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36862503
6.
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.
Diagnostics (Basel)
; 12(1)2022 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054374
7.
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Diagnostics (Basel)
; 11(9)2021 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573976