Associated Papers
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.
Salame M et al.
Journal of Applied Genetics, 2025
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Aboagye ET et al.
Genes, 2023
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Domínguez-Ruiz M et al.
Genes, 2022
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
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.
Salime S et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
Zhang QJ et al.
Acta Oto-laryngologica, 2015
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Borck G et al.
Clinical Genetics, 2012
DFNA5, a gene involved in hearing loss and cancer: a review.
de Beeck KO et al.
The Annals of Otology, Rhinology, and Laryngology, 2012
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