Associated Papers
Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.
Buianova AA et al.
International Journal of Molecular Sciences, 2024
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
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