検索結果 - Anne Debost‐Legrand
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Prenatal exposure to persistent organic pollutants and organophosphate pesticides, and markers of glucose metabolism at birth 著者: Anne Debost‐Legrand, Charline Warembourg, Catherine Massart, Cécile Chevrier, Nathalie Bonvallot, Christine Monfort, Florence Rouget, Fabrice Bonnet, Sylvaine Cordier
出版事項 2016Artigo -
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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies 著者: Emma Ashton, Anne Debost‐Legrand, Valérie Benoît, Isabelle Roncelin, Annabelle Vénisse, Maria‐Christina Zennaro, Xavier Jeunemaı̂tre, Daniela Iancu, William G. van’t Hoff, Stephen B. Walsh, Nathalie Godefroid, Annelies Rotthier, Elena Del Favero, Olivier Devuyst, Franz Schaefer, Lucy Jenkins, Robert Kleta, Karin Dahan, Rosa Vargas‐Poussou, Detlef Böckenhauer
出版事項 2018Artigo -
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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome 著者: Anne Debost‐Legrand, Cyrielle Tréard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet‐Thomas, Françoise Broux, Bruno Daniele, Stéphane Decramer, Georges Deschênes, D. Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, G Morin, François Nobili, Christine Piétrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard, Rosa Vargas‐Poussou
出版事項 2017Artigo -
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Arterial tortuosity syndrome: 40 new families and literature review 著者: Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al‐Essa, Waheed Al-Manea, Damien Bonnet, Özlem Bostan, Odile Boute, Tiffany Busa, N Canham, Ergün Çil, Paul Coucke, Margot A. Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R. Deyle, Harry C. Dietz, Sophie Dupuis‐Girod, Eudice Fontenot, Björn Fischer‐Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Díez, Mohammed Z. Haider, Joshua S. Hardin, Xavier Jeunemaı̂tre, Eric W. Klee, Uwe Kornak, Manuel F. Landecho, Anne Debost‐Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, María A. Ramos‐Arroyo, Massimiliano Rossi, Mustafa A. Salih, Mohammed Zain Seidahmed, Élise Schaefer, Elisabeth Steichen‐Gersdorf, Şehime Gülsün Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R. Collins, Andrea Taylor, Elaine C. Davis, Yuri A. Zárate, Bert Callewaert
出版事項 2018Artigo
関連主題
Medicine
Biology
Genetics
Internal medicine
Bartter syndrome
Gene
Hypokalemia
Pathology
Bioinformatics
Chemistry
Cohort
Connective Tissue Disorder
DNA sequencing
Diaphragmatic hernia
Disease
Ecology
Economics
Elastin
Environmental chemistry
Environmental health
Exon
Frameshift mutation
Gene mutation
Genetic heterogeneity
Genetic testing
Gestation
Hernia
Histology
Kidney disease
Meta-analysis