检索结果 - Lucile Boutaud
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Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation 由 Caroline Alby, Valérie Malan, Lucile Boutaud, M. Marangoni, Bettina Bessières, Maryse Bonnière, Amale Ichkou, Nadia Elkhartoufi, Nadia Bahi‐Buisson, Pascale Sonigo, A. Millischer, Sophie Thomas, Y. Ville, Michel Vekemans, Férechté Encha‐Razavi, Tania Attié‐Bitach
出版 2015Artigo -
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Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients 由 Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel
出版 2014Artigo -
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU 由 Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot
出版 2017Artigo
相关主题
Biology
Genetics
Anatomy
Medicine
Corpus callosum
Gene
Haploinsufficiency
Intellectual disability
Internal medicine
Microcephaly
Neuroscience
Phenotype
Adenine phosphoribosyltransferase
Agenesis
Agenesis of the corpus callosum
Atresia
Autopsy
Biochemistry
CHARGE syndrome
Cerebellar hypoplasia (non-human)
Cerebellum
Choanal atresia
Chromosome
Ciliopathies
Cilium
Dermatology
Environmental health
Enzyme
Etiology
Evolutionary biology