Resultats de la cerca - Stanislas Lyonnet
- Mostrar 1 - 20 resultats de 113
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Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors per Mireille Castanet, Michel Polak, Catherine Bonaïti‐Pellié, Stanislas Lyonnet, Paul Czernichow, Juliane Léger
Publicat 2001Artigo -
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Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect per Massimo Chessa, Gianfranco Butera, P Bonhoeffer, Laurence Iserin, J Kachaner, Stanislas Lyonnet, Arnold Münnich, Daniel Sidi, Damien Bonnet
Publicat 1998Artigo -
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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation per Christelle Golzio, Emmanuelle Havis, Philippe Daubas, Grégory Nuel, Candice Babarit, Arnold Münnich, Michel Vekemans, Stéphane Zaffran, Stanislas Lyonnet, Heather Etchevers
Publicat 2012Artigo -
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Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction per Delphine Trochet, Seok Jong Hong, Jinkyu Lim, Jean‐François Brunet, Arnold Münnich, Kwangsoo Kim, Stanislas Lyonnet, Christo Goridis, Jeanne Amiel
Publicat 2005Artigo -
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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome per Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Münnich, Christine Gicquel, Valérie Cormier‐Daire, Laurence Colleaux
Publicat 2004Artigo -
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Human neural crest cells display molecular and phenotypic hallmarks of stem cells per Sophie Thomas, Marie Thomas, Patrick Wincker, Candice Babarit, Pu‐Ting Xu, Marcy C. Speer, Arnold Münnich, Stanislas Lyonnet, Michel Vekemans, Heather Etchevers
Publicat 2008Artigo -
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Interaction between a chromosome 10<i>RET</i>enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association per Stacey Arnold, Anna Pelet, Jeanne Amiel, Salud Borrego, Robert M.W. Hofstra, Paul Tam, Isabella Ceccherini, Stanislas Lyonnet, Stephanie L. Sherman, Aravinda Chakravarti
Publicat 2009Artigo -
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Eines de cerca:
Matèries relacionades
Biology
Genetics
Gene
Medicine
Mutation
Phenotype
Internal medicine
Missense mutation
Anatomy
Cell biology
Exome sequencing
Endocrinology
Gene expression
Pathology
Disease
Exon
Receptor
Cancer research
Molecular biology
Neuroscience
Bioinformatics
Zebrafish
Ciliopathy
Computational biology
Exome
Genotype
Haploinsufficiency
Transcription factor
Ciliopathies
Cilium