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Human Mutation|January 14, 2012
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing lossNicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, et al.
European Journal of Medical Genetics|November 21, 2007
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45ELaurence Jonard, Delphine Feldmann, Christophe Parsy, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|February 10, 2023
Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene DeletionsSophie Achard, Margaux Campion, Marine Parodi, et al.
Clinical Genetics|June 28, 2024
HDR syndrome: Large cohort and systematic reviewNicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Perrault syndrome: report of four new cases, review and exclusion of candidate genesSandrine Marlin, Didier Lacombe, Laurence Jonard, et al.
Biomedicines|August 28, 2025
Vestibular Deficit in Patients with Waardenburg SyndromeMathilde Benifla, Margaux Serey-Gaut, Emilie Bois, et al.
Pediatric Diabetes|June 5, 2014
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndromeMohammad Al-Haggar, Nanees Salem, Yahya Wahba, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|November 16, 2013
Discovery of a large deletion of KAL1 in 2 deaf brothersSandrine Marlin, Sandra Chantot-Bastaraud, Albert David, et al.
Human Mutation|February 26, 2017
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateSarah Issa, Nadege Bondurand, Emmanuelle Faubert, et al.
Human Molecular Genetics|February 4, 2020
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestationsNicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, et al.
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