Søgeresultater - Martine Blayau
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1
Phenotypic and molecular variability of the holoprosencephalic spectrum af Leïla Lazaro, Christèle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie‐Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent
Udgivet 2004Artigo -
2
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age af Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire De Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, P. Parent, Hubert Journel, Leïla Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Bonhomme‐Faivre, B. Eymard, Kim Maincent, Romain K. Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre
Udgivet 2013Artigo -
3
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase af Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres
Udgivet 2009Artigo -
4
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France af 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
Udgivet 2000Artigo -
5
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer af Thierry Frébourg, Carla Oliveíra, Patrick Hochain, Rachid Karam, Sylvie Manouvrier, Carla Graziadio, Michel Vekemans, A Hartmann, Stéphanie Baert‐Desurmont, C Alexandre, S Lejeune Dumoulin, Cláudio Augusto Marroni, Cosette Martin, Sérgio Castedo, Michael Lovett, Janet S. Winston, José Carlos Machado, Tania Attié‐Bitach, Ethylin Wang Jabs, Juanliang Cai, P. Pellerin, J.-P. Triboulet, Michel Scotté, Florence Le Pessot, A Hedouin, Fátima Carneiro, Martine Blayau, Raquel Seruca
Udgivet 2005Artigo
Søgeredskaber:
Relaterede emner
Biology
Gene
Genetics
Mutation
Phenotype
Compound heterozygosity
Genotype
Internal medicine
Medicine
Age of onset
Allele
Bioinformatics
CDH1
Cadherin
Cancer
Cell
Cognition
Computational biology
Computer science
Cystic fibrosis
Database
Disease
Duchenne muscular dystrophy
Dystrophin
Endocrinology
Fetus
Gastroenterology
Genetic counseling
Genotype-phenotype distinction
Holoprosencephaly