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Audiology & Neuro-Otology|July 25, 2017
Unilateral Sensorineural Hearing Loss: Medical Context and EtiologyAntoine Paul, Sandrine Marlin, Marine Parodi, et al.
Stem Cell Research|August 27, 2025
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8Daria Mamaeva, Nejla Erkilic, Christel Vaché, 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.
Journal of Clinical Microbiology|September 28, 2007
Evaluation of cytomegalovirus (CMV) DNA quantification in dried blood spots: retrospective study of CMV congenital infectionChristelle Vauloup-Fellous, Aurélie Ducroux, Vincent Couloigner, et al.
Clinical Dysmorphology|September 6, 2007
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patientsMarie-France Portnoï, Nicolas Gruchy, Sandrine Marlin, et al.
Frontiers in Pediatrics|December 8, 2018
Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin SequenceAnne Morice, Véronique Soupre, Delphine Mitanchez, et al.
Human Mutation|January 14, 2012
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing lossNicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, et al.
Pediatric Radiology|December 9, 2010
Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRIEldad Katorza, Catherine Nahama-Allouche, Vanina Castaigne, 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.
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