Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Sklenar M et al.
Molecular Medicine (cambridge, Mass.), 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.
Alerasool M et al.
Clinical Genetics, 2024
Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.
Yilmaz U et al.
Ear, Nose, & Throat Journal, 2024
High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.
Rodriguez-Valero M et al.
Laryngoscope Investigative Otolaryngology, 2024
Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing.
Rezaie N et al.
Molecular Biology Reports, 2024
Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
Li YQ et al.
Bmc Medical Genomics, 2024
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 2023
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Cengiz FB et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
Ladsous M et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
[Pendred syndrome and nonsyndromic related deafness: a same entity?].
Wemeau JL et al.
Bulletin De L'academie Nationale De Medecine, 0