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European Journal of Medical Genetics|September 6, 2011
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotypeLaurence Jonard, Vincent Couloigner, Sébastien Pierrot, et al.
Pediatrics|March 27, 2013
Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory conditionIsabelle Melki, Karen Lambot, Laurence Jonard, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|July 26, 2017
Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?Alban Ziegler, Natalie Loundon, Laurence Jonard, et al.
European Journal of Medical Genetics|September 20, 2019
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature reviewElisa Rubinato, Sophie Rondeau, Fabienne Giuliano, et al.
Journal of Cell Science|May 29, 2003
BTG2 antiproliferative protein interacts with the human CCR4 complex existing in vivo in three cell-cycle-regulated formsAnne-Pierre Morel, Stéphanie Sentis, Claire Bianchin, et al.
European Journal of Medical Genetics|June 26, 2026
Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophySarah Chamieh, Pauline Marzin, Sophie Achard, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|August 5, 2025
Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear ImplantsAugustin Vigouroux, Benjamin Glemain, Renato Torres, et al.
Clinical Genetics|October 21, 2023
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal modelsGodelieve Morel, Sylvain Ernest, Margaux Serey-Gaut, et al.
European Journal of Medical Genetics|December 23, 2008
A new large deletion in the DFNB1 locus causes nonsyndromic hearing lossDelphine Feldmann, Cédric Le Maréchal, Laurence Jonard, et al.
Biochemical and Biophysical Research Communications|March 17, 2010
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!Sandrine Marlin, Delphine Feldmann, Yann Nguyen, et al.
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