Detalhe da pesquisa
1.
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Hum Genet
; 141(3-4): 785-803, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34148116
2.
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
BMC Med Genet
; 19(1): 81, 2018 05 18.
Artigo
Inglês
| MEDLINE | ID: mdl-29776397
3.
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Ear Hear
; 37(4): e238-46, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26849169
4.
Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.
Mol Cell Probes
; 29(5): 260-70, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25845345
5.
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
Genet Med
; 16(12): 945-53, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24875298
6.
Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.
Hear Res
; 397: 107906, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32063424
7.
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.
Mol Genet Genomic Med
; 8(8): e1343, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32519820
8.
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Genes (Basel)
; 11(11)2020 11 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33187236
9.
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Eur J Med Genet
; 62(10): 103724, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31315069
10.
Phenotypic Characterization of DFNB16-associated Hearing Loss.
Otol Neurotol
; 40(1): e48-e55, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30531641
11.
Hereditary hearing loss SNP-microarray pilot study.
BMC Res Notes
; 11(1): 391, 2018 Jun 14.
Artigo
Inglês
| MEDLINE | ID: mdl-29903040
12.
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment.
Mol Syndromol
; 6(4): 156-63, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26648831