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Journal Article
Journal Article
OTOLARYNGOLOGY-HEAD AND NECK SURGERY, ISSN 0194-5998, 11/2017, Volume 157, Issue 5, pp. 853 - 860
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 12430 - 15
The cupula is a gelatinous membrane overlying the crista ampullaris of the semicircular canal, important for sensing rotation of the head and critical for... 
STRAINS | RESPONSES | VERTIGO | MUTANTS | MULTIDISCIPLINARY SCIENCES | MOUSE | CDH23 | DISORDERS | WALTZER | EYE-MOVEMENTS | VESTIBULAR DYSFUNCTION | Semicircular canals | Brain stem | Hair cells | Gene expression | Zona pellucida | Saccule | Inner ear | Hearing | Rodents | Vestibulo-ocular reflex | Auditory system | Cristae | Vestibular system | Mutation | Utricle
Journal Article
Pakistan Journal of Medical Sciences, ISSN 1682-024X, 2019, Volume 35, Issue 1, pp. 17 - 22
Objective: In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk... 
EVC2 | Deafness | MYO7A | Next Generation Sequencing | MEDICINE, GENERAL & INTERNAL | GENES | CDH23 | DOPAMINE | EXPRESSION | Surveys | Ethylenediaminetetraacetic acid | Genetic aspects | Dopamine | Disease | Genomics | Mutation | Gene expression | Hearing impairment | Deoxyribonucleic acid--DNA | Binding sites | Cell adhesion & migration | Original
Journal Article
NEUROREPORT, ISSN 0959-4965, 02/2019, Volume 30, Issue 3, pp. 145 - 150
We previously developed Cdh23(erl/erl) mutant mice (erl mice) as a model of hearing loss for otoprotective drug evaluation and showed that the erl mutation... 
age-related hearing loss | 4-phenylbutyrate | MOUSE | MUTATION | CDH23 | MECHANISMS | MODEL | NEUROSCIENCES | endoplasmic reticulum stress
Journal Article
Journal Article
Genes, ISSN 2073-4425, 09/2019, Volume 10, Issue 10, p. 732
Aims: The aim of this study was the genetic diagnosis by next generation sequencing (NGS) of a patient diagnosed with Usher syndrome type 2 and the functional... 
CDH23 | splice site variants | phenotypic effects | Usher syndrome | functional analysis
Journal Article