Results 111 to 120 of about 1,850 (127)

Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews

Fetal and Pediatric Pathology, 2020
Mohammad Farhadi, Massoud Houshmand, Masoumeh Falah   +2 more
exaly  

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

American Journal of Medical Genetics, Part A, 2004
Sébastien SCHMERBER, Christine Petit, Pierre Chauvin   +2 more
exaly  

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

International Journal of Pediatric Otorhinolaryngology, 2012
Guanming Chen
exaly  

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria

Hearing Research, 2004
Klemens Frei, Christian Schoefer, Wolf-Dieter Baumgartner   +2 more
exaly  

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

Genetics in Medicine, 2007
Jans Fromow-guerra, Rong Mao
exaly  

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

Journal of Genetics, 2009
T Padma
exaly  

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria†‡

Human Mutation, 2003
Gerd Utermann, Patrick Zorowka
exaly  

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

International Journal of Audiology, 2009
Rosamaria Santarelli, Elisabetta Genovese, Massimo Carella   +2 more
exaly  

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

Genes, 2019
Emile Chimusa, Samuel Mawuli Adadey, Jean Jacques Noubiap   +2 more
exaly  

GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63

Journal of Dermatological Science, 2013
Mazen Kurban, Hiroki Fujikawa
exaly