Risultati della ricerca - Cédric Julien
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The genetic epidemiology of idiopathic scoliosis di Kristen F. Gorman, Cédric Julien, Alain Moreau
Pubblicazione 2012Revisão -
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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... di Yoann Saillour, Ginevra Zanni, V. des Portes, D. Héron, Laurent Guibaud, M T Iba-Zizen, Jean‐Michel Pédespan, Karine Poirier, L. Castelnau, Cédric Julien, C Franconnet, David T. Bonthron, Mary Porteous, Jamel Chelly, Thierry Bienvenu
Pubblicazione 2007Carta -
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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease di Claire Chauveau, Carsten G. Bönnemann, Cédric Julien, Ay Lin Kho, Harold G. Marks, Beril Talim, Philippe Maury, M. C. Arne-Bes, Emmanuelle Uro‐Coste, Alexander Alexandrovich, Anna Vihola, Sebastian Schäfer, Beat A. Kaufmann, Līvija Medne, Norbert Hübner, A. Reghan Foley, Mariarita Santi, Bjarne Udd, Haluk Topaloğlu, Steven A. Moore, Michael Gotthardt, Mark E. Samuels, Mathias Gautel, Ana Ferreiro
Pubblicazione 2013Artigo -
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Genotype–phenotype correlations in recessive titinopathies di Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sárközy, Sushan Luo, Jordi Díaz‐Manera, Christoffer Ehrstedt, Ricardo Rojas‐García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, H. Luque, Philippe Petiot, Adolfo López de Munaín, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo M. Santorelli, Claudio Bruno, Thierry Küntzer, Isabel Illa, Juan J. Vílchez, Cédric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar‐Borota, Mark R. Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd
Pubblicazione 2020Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Gene
Genetics
Medicine
Genotype
Phenotype
Candidate gene
Disease
Endocrinology
Genetic association
Internal medicine
Mutation
Pathology
Single-nucleotide polymorphism
Alzheimer's disease
Amyloid beta
Applied psychology
Basal ganglia
Bioinformatics
Biopsy
Cardiomyopathy
Central nervous system
Cognition
Compound heterozygosity
Congenital myopathy
Cross-sectional study
Dilated cardiomyopathy
Endophenotype
Environmental health
Exome sequencing