Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS7
A Case of Autosomal Recessive Retinitis Pigmentosa with Vitelliform-Like Appearance at the Macula Associated with Novel MYO7A Variant P.Ser383TrpfsTer64.
Yaman C et al.
Beyoglu Eye Journal, 2024
A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.
Yang HW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde BS et al.
Clinical Genetics, 2020
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
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