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Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process.
Saudi J Biol Sci. 2021 Aug;28(8):4421-4429. doi: 10.1016/j.sjbs.2021.04.036. Epub 2021 Apr 20.
Saudi J Biol Sci. 2021.
PMID: 34354426
Free PMC article.
Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss.
Mahfood M, Kamal Eddine Ahmad Mohamed W, Al Mutery A, Tlili A.
Mahfood M, et al. Among authors: kamal eddine ahmad mohamed w.
Genet Test Mol Biomarkers. 2019 Mar;23(3):204-208. doi: 10.1089/gtmb.2018.0264. Epub 2019 Feb 13.
Genet Test Mol Biomarkers. 2019.
PMID: 30758234
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Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.
Tlili A, Fahd Al Mutery A, Mahfood M, Kamal Eddine Ahmad Mohamed W, Bajou K.
Tlili A, et al. Among authors: kamal eddine ahmad mohamed w.
PLoS One. 2017 Sep 25;12(9):e0185281. doi: 10.1371/journal.pone.0185281. eCollection 2017.
PLoS One. 2017.
PMID: 28945813
Free PMC article.
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Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.
Tlili A, Al Mutery A, Kamal Eddine Ahmad Mohamed W, Mahfood M, Hadj Kacem H.
Tlili A, et al. Among authors: kamal eddine ahmad mohamed w.
Genet Test Mol Biomarkers. 2017 Nov;21(11):686-691. doi: 10.1089/gtmb.2017.0130. Epub 2017 Oct 10.
Genet Test Mol Biomarkers. 2017.
PMID: 29016196
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