Arama Sonuçları - Serge Vicaire
- Gösterilen 1 - 8 sonuçlar arası kayıtlar. 8
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1
Efficient Cloning of cDNAs of Retinoic Acid-Responsive Genes in P19 Embryonal Carcinoma Cells and Characterization of a Novel Mouse Gene, Stra1 (Mouse LERK-2/Eplg2) Yazar: Philippe Bouillet, Mustapha Oulad‐Abdelghani, Serge Vicaire, Jean‐Marie Garnier, Brigitte Schuhbaur, Pascal Dollé, Pierre Chambon
Baskı/Yayın Bilgisi 1995Artigo -
2
Next generation sequencing for molecular diagnosis of neuromuscular diseases Yazar: Nasim Vasli, Johann Böhm, Stéphanie Le Gras, Jean Muller, Cécile Pizot, Bernard Jost, Andoni Echaniz‐Laguna, Vincent Laugel, Christine Tranchant, Rafaëlle Bernard, Frédéric Plewniak, Serge Vicaire, Nicolas Lévy, Jamel Chelly, Jean‐Louis Mandel, Valérie Biancalana, Jocelyn Laporte
Baskı/Yayın Bilgisi 2012Artigo -
3
Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 Yazar: Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, Frédéric Frénois, S. Lejeune-Dumoulin, Marie‐Pierre Alex‐Cordier, Marine Lebrun, P. Guerreschi, V. Duquennoy-Martinot, Matthieu Vinchon, Joël Ferri, Matthieu Jung, Serge Vicaire, Clémence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier‐Hanu
Baskı/Yayın Bilgisi 2017Artigo -
4
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome Yazar: Corinne Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cécile Jacquelin, Frédéric Plewniak, Carmen C. Leitch, Pierre Sarda, Christian Hamel, Thomy de Ravel, Richard A. Lewis, Evelyne Friederich, Christelle Thibault-Carpentier, Jean-Marc Danse, Alain Verloès, Dominique Bonneau, Nicholas Katsanis, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus
Baskı/Yayın Bilgisi 2006Artigo -
5
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease Yazar: Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus
Baskı/Yayın Bilgisi 2010Artigo -
6
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy Yazar: Fernande Freyermuth, Fredérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault-Carpentier, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckère, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Émilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang‐Yung Lee, Maurice S. Swanson, Adolfo López de Munaín, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric T. Wang, Thomas Zimmer, Denis Furling, Masanori Takahashi, Nicolas Charlet‐Berguerand
Baskı/Yayın Bilgisi 2016Artigo -
7
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Yazar: Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton
Baskı/Yayın Bilgisi 2014Artigo -
8
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement Yazar: Megana Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michaël Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, D Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller‐Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean‐Luc Davideau, Tiphaine Davit‐Béal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean‐Pierre Duprez, Sylvie Odent, Isabelle Bailleul‐Forestier, M. Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, S. Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel De La Dure‐Molla, Yves Alembik, C Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, M.C. Manière, Hélène Dollfus, Agnès Bloch‐Zupan
Baskı/Yayın Bilgisi 2015Artigo
Arama Araçları:
İlgili Konular
Biology
Gene
Genetics
Phenotype
Bioinformatics
Exome sequencing
Medicine
Mutation
Bardet–Biedl syndrome
Computational biology
Disease
Genetic heterogeneity
Missense mutation
Pathology
ATRX
Allele
Alternative splicing
Amelogenesis imperfecta
CDH1
Cadherin
Candidate gene
Cell
Cell biology
Cellular differentiation
Chaperonin
Chemistry
Ciliopathies
Cloning (programming)
Complementary DNA
Compound heterozygosity