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1.
Variants in CIB2 cause DFNB48 and not USH1J.
Clin Genet
; 93(4): 812-821, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29112224
2.
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.
Clin Genet
; 89(4): 466-472, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26346818
3.
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
Clin Genet
; 90(3): 288-90, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27246798
4.
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
Clin Genet
; 78(3): 267-74, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20236118
5.
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
J Med Genet
; 41(3): 147-54, 2004 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-14985372
6.
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Arch Dermatol Res
; 304(2): 171-6, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22081045
7.
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
J Med Genet
; 42(7): 588-94, 2005 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15994881
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