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Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
Sophie Boucher
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Fabienne Wong Jun Tai
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Sedigheh Delmaghani
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Andrea Lelli
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Amrit Singh-Estivalet
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et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Article dans une revue
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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Rahma Mkaouar
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Zied Riahi
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Jihene Marrakchi
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Nessrine Mezzi
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Lilia Romdhane
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et al.
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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Veronique Pingault
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Virginie Bodereau
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Viviane Baral
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Severine Marcos
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Yuli Watanabe
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et al.
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Telemedicine in Audiology. Best practice recommendations from the French Society of Audiology (SFA) and the French Society of Otorhinolaryngology-Head and Neck Surgery (SFORL)
H. Thai-Van
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D. Bakhos
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D. Bouccara
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N. Loundon
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M. Marx
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et al.
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