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

অনুযায়ী Lerat, Justine, Magdelaine, Corinne, Derouault, Paco, Beauvais‐Dzugan, Hélène, Bieth, Eric, Acket, Blandine, Arne‐Bes, Marie‐Christine, Sturtz, Franck, Lia, Anne‐Sophie
প্রকাশিত Mol Genet Genomic Med (2019)

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

অনুযায়ী 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
প্রকাশিত Ann Clin Transl Neurol (2021)

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

অনুযায়ী 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
প্রকাশিত Mol Genet Genomic Med (2019)