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1.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Genes (Basel)
; 13(1)2022 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35052489
2.
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Hum Mutat
; 29(6): 823-31, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18381613
3.
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Eur J Hum Genet
; 16(8): 888-96, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18285825
4.
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
Am J Med Genet A
; 140(4): 392-7, 2006 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-16411215
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