Associated Papers
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.
de Oliveira RTG et al.
International Journal of Dermatology, 2020
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China.
Lu Y et al.
Journal of Biomedical Research, 2011
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Yuan Y et al.
Journal of Translational Medicine, 2009
Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness.
Nahili H et al.
International Journal of Pediatric Otorhinolaryngology, 2008
[Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].
Barashkov NA et al.
Vestnik Otorinolaringologii, 2008
Coincidence of mutations in different connexin genes in Hungarian patients.
Tóth T et al.
International Journal of Molecular Medicine, 2007
[Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].
Kunstmann E et al.
Hno, 2005
Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.
Frei K et al.
Hearing Research, 2004
Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.
Mhatre AN et al.
Clinical Genetics, 2003
Select a paper to view details