Associated Papers
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.
Shadab M et al.
Molecular Diagnosis & Therapy, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Mechanoelectrical transduction-related genetic forms of hearing loss.
Jung J et al.
Current Opinion in Physiology, 2023
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us.
Farhadi M et al.
Journal of Cellular and Molecular Medicine, 2021
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR et al.
Molecular Biology Reports, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Research of genetic bases of hereditary non-syndromic hearing loss.
Subaşıoğlu A et al.
Turk Pediatri Arsivi, 2017
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
Svidnicki MC et al.
Bmc Medical Genetics, 2015
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
Shafique S et al.
Plos One, 2014
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.
Yang JJ et al.
International Journal of Pediatric Otorhinolaryngology, 2010
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
Sirmaci A et al.
Clinical Genetics, 2009
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Santos RL et al.
Journal of Molecular Medicine (berlin, Germany), 2006
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
Naz S et al.
American Journal of Human Genetics, 2002