Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
Ramzan M et al.
European Journal of Human Genetics : Ejhg, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
37561809 (PubMed )
Supplement: pone.0289247.s002.xlsx › Sheet1
Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.
Elsayed O et al.
Molecular Genetics & Genomic Medicine, 2022
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss.
Liang P et al.
International Journal of Pediatric Otorhinolaryngology, 2021
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Wang J et al.
Scientific Reports, 2021
Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome.
Qiao F et al.
Frontiers in Genetics, 2021
33633789 (PubMed )
Supplement: Table_2.xlsx › Sheet1
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Bazazzadegan N et al.
Iranian Journal of Public Health, 2019
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
Vona B et al.
Molecular Syndromology, 2017
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