Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mathieu Decamp"'
Autor:
Genevieve Abeguile, Nicolas Gruchy, Cindy Colson, Mathieu Decamp, Nicolas Richard, Marie-Laure Kottler
Publikováno v:
Endocrine Abstracts.
Autor:
Mathilde Hunault-Berger, Aline Renneville, Nicolas Duployez, Martin Figeac, Stéphane Cheze, Christian Rose, Aspasia Stamatoullas-Bastard, Catherine Badens, Thomas Prebet, Virginie Eclache, Anne Murati, Claude Preudhomme, Pierre Fenaux, Sylvie Daliphard, Claude Gardin, Pascale Cony-Makhoul, Blandine Beve, Christian Bastard, Mathieu Decamp, Nicolas Poret, Charles Herbaux, Caroline Lacoste, Frédéric Maloisel
Publikováno v:
American Journal of Hematology. 90:737-738
Acquired α-thalassemia myelodysplastic syndrome (MDS) (ATMDS) is an acquired syndrome characterized by a somatic point mutation or splicing defect in the ATRX gene in patients with myeloid disorders, primarily MDS. In a large MDS patient series, the
Autor:
Nicolas Richard, Nicolas Gruchy, Joris Andrieux, Ghislaine Plessis, Marie-Laure Kottler, Hervé Mittre, Elodie Lacaze, Mathieu Decamp, Marie-José Penniello-Valette, Nathalie Leporrier, Marion Gérard
Publikováno v:
American Journal of Medical Genetics Part A.
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 m