Frédérique Jossic

TCTN3 Mutations Cause Mohr-Majewski Syndrome

Sophie Thomas, Marine Legendre, Sophie Saunier et al. · The American Journal of Human Genetics · 2012 · 137 citations · Full text

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier et al. · Acta Neuropathologica Communications · 2014 · 129 citations · Full text

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Homa Adle‐Biassette, Pascale Saugier-Véber, Catherine Fallet‐Bianco et al. · Acta Neuropathologica · 2013 · 124 citations · Full text

Unknown Molecular Bases, Neurobiology Of Disease, Neurogenomics +14

Disseminated <i>Scedosporium</i> / <i>Pseudallescheria</i> Infection after Double-Lung Transplantation in Patients with Cystic Fibrosis

Florent Morio, Delphine Horeau-Langlard, Françoise Gay‐Andrieu et al. · Journal of Clinical Microbiology · 2010 · 79 citations · Full text

Lung Transplantation, Tracheobronchitis, Molecular Diagnostic Techniques +10

DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences

Masashi Akiyama, Matthias Titeux, Kaori Sakai et al. · Journal of Investigative Dermatology · 2006 · 67 citations · Full text

Biology, Mendelian Disorder, Genetic Disorder +10