檢索結果 - Isabelle Souville
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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria 由 Karine Poirier, Yoann Saillour, Franck J. Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Chérif Beldjord, Jamel Chelly, Nadia Bahi‐Buisson
出版 2012Artigo -
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The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 由 Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, Yoann Saillour, Stéphanie Valence, Nicolas Lebrun, Marie Hully, Catherine Fallet Bianco, Nathalie Boddaert, Caroline Elie, Karine Lascelles, Isabelle Souville, Chérif Beldjord, Jamel Chelly
出版 2014Artigo -
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New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum 由 Nadia Bahi‐Buisson, Isabelle Souville, Franck J. Fourniol, Aurélie Toussaint, Carolyn A. Moores, Anne Houdusse, Jean Yves Lemaitre, Karine Poirier, Reham Khalaf‐Nazzal, Marie Hully, Pierre Louis Léger, Caroline Elie, Nathalie Boddaert, Chérif Beldjord, Jamel Chelly, Fiona Francis
出版 2013Artigo
相關主題
Neuroscience
Biology
Gene
Genetics
Lissencephaly
Medicine
Missense mutation
Allele
Computer science
Computer security
Dentate gyrus
Doublecortin
Epilepsy
Frameshift mutation
Genotype
Hippocampal formation
Key (lock)
Mutation
Pachygyria
Pathology
Phenotype
Physics
Polymicrogyria
Psychology
Quantum mechanics
Spectrum (functional analysis)