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1.
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.
Hum Mol Genet
; 29(23): 3729-3743, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33078831
2.
Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.
OMICS
; 26(1): 2-18, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35041532
3.
Craniofacial, dental, and molecular features of Pyle disease in a South African child.
BDJ Open
; 8(1): 28, 2022 Sep 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36138002
4.
Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families.
Front Genet
; 13: 924904, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36035115
5.
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Commun Biol
; 5(1): 369, 2022 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35440622
6.
Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment.
Exp Biol Med (Maywood)
; 246(2): 197-206, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32996353
7.
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
Genes (Basel)
; 12(11)2021 11 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34828371
8.
GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana.
Front Genet
; 10: 841, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31620164
9.
The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research.
Genes (Basel)
; 10(12)2019 11 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31766582
10.
A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel Sequencing.
OMICS
; 21(2): 90-99, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28075205
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