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European Journal of Medical Genetics|March 7, 2018
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasiaStéphanie Moortgat, Damien Lederer, Marie Deprez, et al.
Analytical Chemistry|December 20, 2016
A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic PreconditioningJudith Kouassi Nzoughet, Cinzia Bocca, Gilles Simard, et al.
World Journal of Gastroenterology|January 14, 2014
Evaluation of the colorectal cancer risk conferred by rare UNC5C allelesSébastien Küry, Céline Garrec, Fabrice Airaud, et al.
Acta Dermato-Venereologica|December 17, 2014
Burden of inherited ichthyosis: a French national surveyIsabelle Dreyfus, Céline Pauwels, Emmanuelle Bourrat, et al.
Orphanet Journal of Rare Diseases|January 8, 2014
Prevalence of inherited ichthyosis in France: a study using capture-recapture methodIsabelle Dreyfus, Cécile Chouquet, Khaled Ezzedine, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasiaAnouck Schneider, Brigitte Benzacken, Agnès Guichet, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
Brain : a Journal of Neurology|November 1, 2022
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probandsAude Rocatcher, Valérie Desquiret-Dumas, Majida Charif, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 13, 2010
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathyCédric Lamirel, Julien Cassereau, Isabelle Cochereau, et al.
Frontiers in Psychiatry|August 6, 2021
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case SeriesElise Riquin, Thomas Le Nerzé, Natwin Pasquini, et al.
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