New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

por Lerat, Justine, Magdelaine, Corinne, Derouault, Paco, Beauvais‐Dzugan, Hélène, Bieth, Eric, Acket, Blandine, Arne‐Bes, Marie‐Christine, Sturtz, Franck, Lia, Anne‐Sophie
Publicado 2019

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

por Derouault, Paco, Chauzeix, Jasmine, Rizzo, David, Miressi, Federica, Magdelaine, Corinne, Bourthoumieu, Sylvie, Durand, Karine, Dzugan, Hélène, Feuillard, Jean, Sturtz, Franck, Mérillou, Stéphane, Lia, Anne-Sophie
Publicado 2020

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

por Lafontaine, Maxime, Lia, Anne‐Sophie, Bourthoumieu, Sylvie, Beauvais‐Dzugan, Hélène, Derouault, Paco, Arné‐Bes, Marie‐Christine, Sarret, Catherine, Laffargue, Fanny, Magot, Armelle, Sturtz, Franck, Magy, Laurent, Magdelaine, Corinne
Publicado 2021

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

por Lerat, Justine, Magdelaine, Corinne, Roux, Anne‐Françoise, Darnaud, Léa, Beauvais‐Dzugan, Hélène, Naud, Steven, Richard, Laurence, Derouault, Paco, Ghorab, Karima, Magy, Laurent, Vallat, Jean‐Michel, Cintas, Pascal, Bieth, Eric, Arne‐Bes, Marie‐Christine, Goizet, Cyril, Espil‐Taris, Caroline, Journel, Hubert, Toutain, Annick, Urtizberea, Jon Andoni, Boespflug‐Tanguy, Odile, Laffargue, Fanny, Corcia, Philippe, Pasquier, Laurent, Fradin, Mélanie, Napuri, Sylva, Ciron, Jonathan, Boulesteix, Jean‐Marc, Sturtz, Franck, Lia, Anne‐Sophie
Publicado 2019