Search Results - Michel Vekemans
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Confined placental mosaicism. by DK Kalousek, Michel Vekemans
Published 1996Revisão -
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JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome by Cécile Crosnier, Tania Attié‐Bitach, Férechté Encha-Razavi, Sophie Audollent, Fardouss Soudy, Michelle Hadchouel, Michèle Meunier–Rotival, Michel Vekemans
Published 2000Artigo -
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Mutations in the planar cell polarity genes<i>CELSR1</i>and<i>SCRIB</i>are associated with the severe neural tube defect craniorachischisis by Alexis Robinson, Sarah Escuin, Kit Doudney, Michel Vekemans, Roger E. Stevenson, Nicholas D. E. Greene, Andrew J. Copp, Philip Stanier
Published 2011Artigo -
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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation by Christelle Golzio, Emmanuelle Havis, Philippe Daubas, Grégory Nuel, Candice Babarit, Arnold Münnich, Michel Vekemans, Stéphane Zaffran, Stanislas Lyonnet, Heather Etchevers
Published 2012Artigo -
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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome by Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Münnich, Nigel P. Carter, Valérie Cormier‐Daire, Laurence Colleaux
Published 2006Artigo -
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Isolation by Size of Epithelial Tumor Cells by Giovanna Vona, Abdelmajid Sabile, Malek Louha, Véronique Sitruk, Serge Romana, Karin Schütze, Frédérique Capron, Dominique Franco, Mario Pazzagli, Michel Vekemans, Bernard Lacour, Christian Bréchot, Patrizia Paterlini-Bréchot
Published 2000Artigo -
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Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus by Gabor Szinnai, Ludovic Lacroix, Aurore Carré, Fabien Guimiot, Monique Talbot, Jéléna Martinovic, Anne‐Lise Delezoide, Michel Vekemans, Stefan Michiels, Bernard Caillou, Martin Schlumberger, Jean‐Michel Bidart, Michel Polak
Published 2006Artigo -
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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 by Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano‐Bessières, Maryse Bonnière, S. Delahaye, Arnold Munnich, Férechté Encha-Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attié‐Bitach, Heather Etchevers
Published 2007Artigo -
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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome by Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre F. Ray, Michel Simonneau, Michel Vekemans, Arnold Münnich, Claude Gaultier, Stanislas Lyonnet
Published 2003Artigo -
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Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy by Florence Molinari, Annick Raas‐Rothschild, Marlène Rio, Giuseppe Fiermonte, Férechté Encha‐Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben‐Neriah, Noman Kadhom, Michel Vekemans, Tania Attié‐Bitach, Arnold Münnich, Pierre Rustin, Laurence Colleaux
Published 2005Artigo -
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Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties by David Geneviève, Damien Sanlaville, Laurence Faivre, Marie‐Laure Kottler, Marguerite Jambou, Philippe Gosset, Dinane Boustani-Samara, Graziella Pinto, Catherine Ozilou, Geneviève Abéguilé, Arnold Munnich, Serge Romana, O Raoul, Valérie Cormier‐Daire, Michel Vekemans
Published 2005Artigo -
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Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21 by Valérie Malan, L. Bussières, Norbert Winer, Jean‐Philippe Jaïs, Amandine Baptiste, Marc Le Lorc’h, Caroline Elie, N. O’Gorman, N. Fries, V. Houfflin‐Debarge, Loı̈c Sentilhes, Michel Vekemans, Y. Ville, Laurent Salomon
Published 2018Artigo -
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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity by Sophie Thomas, Vincent Cantagrel, Laura Mariani, Valérie Serre, Jieun Lee, Nadia Elkhartoufi, Pascale de Lonlay, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Stanislas Lyonnet, Michel Vekemans, Steven Lisgo, Tamara Caspary, Joseph G. Gleeson, Tania Attié‐Bitach
Published 2014Artigo -
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Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes by Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Geneviève, Olivier Goulet, Jean‐Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa‐Lyonnet
Published 2006Artigo
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