检索结果 - Marie‐Claire Malinge
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1
<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants 由 Mireille Claustres, C. Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie‐Pierre Audrézet, I. Duguépéroux, Claude Férec, G. Lalau, A. Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Éric Bieth, Marie‐Claire Malinge, Marie‐Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, C. Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil
出版 2017Artigo -
2
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France 由 Mireille Claustres, Caroline Guittard, Dominique Bozon, Fran�oise Chevalier, C. Verlingue, Claude Férec, E. Girodon, C�cile Cazeneuve, Thierry Bienvenu, G. Lalau, Viviane Dumur, Delphine Feldmann, Éric Bieth, Martine Blayau, Christine Clavel, Isabelle Creveaux, Marie‐Claire Malinge, Nicole Monnier, Perrine Malzac, Herv� Mittre, Jean‐Claude Chomel, Jean‐Paul Bonnefont, A. Iron, Mich�le Chery, Marie des Georges
出版 2000Artigo -
3
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects 由 Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Flora Nolent, Jie Zhou, Nicole Monnier, Philippe Latour, D. Gentil, D. Héron, I. Desguerres, P. Landrieu, Claire Bénéteau, B. Delaporte, Céline Bellesme, C. Baumann, Yline Capri, Alice Goldenberg, Stanislas Lyonnet, Dominique Bonneau, B. Estournet, Susana Quijano-Roy, Christine Francannet, S. Odent, Marie‐Hélène Saint‐Frison, Sabine Sigaudy, Dominique Figarella‐Branger, A. Gélot, J M Mussini, C. Lacroix, Valérie Drouin‐Garraud, Marie‐Claire Malinge, Tania Attié‐Bitach, B. Bessières, Maryse Bonnière, Férechté Encha‐Razavi, A. M. Beaufrére, S. Khung-Savatovsky, María José Pérez, Alexandre Vasiljevic, Sandra Mercier, J. Roume, Laetitia Trestard, Pascale Saugier‐Veber, Marie‐Pierre Cordier, Valérie Layet, Marine Legendre, Adeline Vigouroux‐Castera, Joël Lunardi, Mónica Bayés, Pierre‐Simon Jouk, Luc Rigonnot, Michèle Granier, Damien Sternberg, J. Warszawski, Marta Gut, M. Gonzalés, Marcel Tawk, Judith Melki
出版 2013Artigo
相关主题
Biology
Gene
Genetics
Allele
Compound heterozygosity
Cystic fibrosis
Mutation
Arthrogryposis
Arthrogryposis multiplex congenita
Axolemma
Bioinformatics
Cell biology
Central nervous system
Context (archaeology)
Cystic fibrosis transmembrane conductance regulator
Endocrinology
Exome sequencing
Frameshift mutation
Gastroenterology
Genetic counseling
Genetic testing
Genotype
In silico
Internal medicine
Medicine
Myelin
Neuroscience
Paleontology
Peripheral nervous system
Vas deferens