檢索結果 - Emilie Carme
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A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience 由 Mélanie Rama, Claire Duflos, Isabelle Melki, D. Bessis, A. Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Geneviève, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel‐Moranne, N. Tieulié, Jonathan London, Florence Uettwiller, Sophie Georgin‐Lavialle, Alexandre Bélot, Isabelle Koné‐Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay
出版 2018Artigo -
2
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP 由 Mathieu Kuchenbuch, Giulia Barcia, Nicole Chémaly, Emilie Carme, Agathe Roubertie, Marc Gibaud, Patrick Van Bogaert, Anne de Saint Martin, Édouard Hirsch, Fanny Dubois, Catherine Sarret, Sylvie Nguyen The Tich, Cécile Laroche, Vincent des Portes, Thierry Billette de Villemeur, Marie-Anne Barthez, Stéphane Auvin, Nadia Bahi‐Buisson, Isabelle Desguerre, Anna Kaminśka, Pascal Benquet, Rima Nabbout
出版 2019Artigo
相關主題
Internal medicine
Medicine
Pediatrics
Adenosine
Adenosine deaminase
Adenosine deaminase deficiency
Biology
Compound heterozygosity
Context (archaeology)
Disease
Epilepsy
Epileptic spasms
Frameshift mutation
Gene
Genetic testing
Genetics
Genotype
Genotyping
Ictal
Missense mutation
Mutation
Paleontology
Psychiatry
Sanger sequencing
Semiology