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Journal Article
Molecular Psychiatry, ISSN 1359-4184, 01/2018, Volume 24, Issue 7, pp. 1 - 13
Journal Article
Journal Article
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 11/2019, Volume 126, p. 109607
Mutations in the gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as asyndromic... 
GJB2 | Nonsyndromic hearing loss | Palmoplantar keratoderma | De novo
Journal Article
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 02/2019, Volume 117, pp. 115 - 126
Hereditary hearing loss is the most common neurosensory disorder in humans caused by myriad mutations in numerous genes. Autosomal recessive nonsyndromic... 
Nonsyndromic | Myosin 15 | MYO15A | Whole exome sequencing | MYTH4-FERM domain | Iranian population | Hearing loss | FERM DOMAIN | DFNB3 | INNER-EAR | VIIA GENE | MOUSE | CARGO RECOGNITION | FAMILIES | OTORHINOLARYNGOLOGY | MYO15A GENE | PEDIATRICS | DEAFNESS | SPECTRUM
Journal Article
Archives of Iranian medicine, 04/2019, Volume 22, Issue 4, p. 189
Hearing loss (HL) is the most common sensory deficit in humans, and genetic factors contribute to about half of the cases. With 112 causative genes identified... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 1005 - 1015
Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each... 
γ-TuRC | multilocus pathogenic variation | Lissencephaly | TUBGCP2 | cortical malformation | GCP2
Journal Article