Showing results (51-60 of 117) with videos related to
Sort By:
Pageof 12
The Journal of Pediatrics|October 2, 2012
Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French childrenVéronique Avettand-Fenoël, Sandrine Marlin, Christelle Vauloup-Fellous, et al.Investigative Ophthalmology & Visual Science|April 28, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf CohortVasily M Smirnov, Marco Nassisi, Saddek Mohand-Saïd, et al.Journal of Medical Genetics|July 1, 2016
Mutations in <i>MYT1</i>, encoding the myelin transcription factor 1, are a rare cause of OAVSEstelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, 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.European Journal of Human Genetics : EJHG|May 19, 2022
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1Maya Chopra, Richard Caswell, Giulia Barcia, et al.American Journal of Medical Genetics. Part A|August 3, 2023
A 22q13.1 duplication in mosaicism including SOX10William Bertani-Torres, Margaux Serey-Gaut, Judite de Oliveira, et al.American Journal of Medical Genetics. Part A|January 21, 2022
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2DMylène Tharreau, Aurore Garde, Sandrine Marlin, et al.Genes|May 27, 2026
<i>COCH</i>-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype CorrelationsRalyath Balogoun, Margaux Serey-Gaut, Véronique Pingault, et al.Prenatal Diagnosis|April 18, 2024
Artificial intelligence-based diagnosis in fetal pathology using external ear shapesQuentin Hennocq, Nicolas Garcelon, Thomas Bongibault, et al.Human Pathology|August 8, 2016
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubismNatacha Kadlub, Quentin Sessiecq, Linda Dainese, et al.Pageof 12