Publications:

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Journal Of Medical Genetics

Redin, Claire C; Gérard, Bénédicte B; Lauer, Julia J; Herenger, Yvan Y; Muller, Jean J; Quartier, Angélique A; Masurel-Paulet, Alice A; Willems, Marjolaine M; Lesca, Gaétan G; El-Chehadeh, Salima S; Le Gras, Stéphanie S; Vicaire, Serge S; Philipps, Muriel M; Dumas, Michaël M; Geoffroy, Véronique V; Feger, Claire C; Haumesser, Nicolas N; Alembik, Yves Y; Barth, Magalie M; Bonneau, Dominique D; Colin, Estelle E; Dollfus, Hélène H; Doray, Bérénice B; Delrue, Marie-Ange MA; Drouin-Garraud, Valérie V; Flori, Elisabeth E; Fradin, Mélanie M; Francannet, Christine C; Goldenberg, Alice A; Lumbroso, Serge S; Mathieu-Dramard, Michèle M; Martin-Coignard, Dominique D; Lacombe, Didier D; Morin, Gilles G; Polge, Anne A; Sukno, Sylvie S; Thauvin-Robinet, Christel C; Thevenon, Julien J; Doco-Fenzy, Martine M; Genevieve, David D; Sarda, Pierre P; Edery, Patrick P; Isidor, Bertrand B; Jost, Bernard B; Olivier-Faivre, Laurence L; Mandel, Jean-Louis JL; Piton, Amélie A

Publication Date: 2014-11

Variant appearance in text: DMD: 10889del; Arg3630Glnfs*27

PubMed Link: 25167861

Variant Present in the following documents:

• Main text
• jmedgenet-2014-102554-s1.pdf
• jmedgenet-2014-102554.pdf

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