Search Results - Laurence Michel‐Calemard
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1
Gonadal Dysgenesis Without Adrenal Insufficiency in a 46, XY Patient Heterozygous for the Nonsense C16X Mutation: A Case of SF1 Haploinsufficiency by Delphine Mallet, Patricia Bretones, Laurence Michel‐Calemard, Frédérique Dijoud, M David, Yves Morel
Published 2004Artigo -
2
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease by Érick Denamur, Anne‐Lise Delezoide, Corinne Alberti, Agnès Bourillon, Marie‐Claire Gubler, Raymonde Bouvier, Olivier Pascaud, Jacques Élion, Bernard Grandchamp, Laurence Michel‐Calemard, Pascale Missy, Isabelle Zaccaria, Hervé Le Nagard, Bénédicte Gérard, Chantal Loirat
Published 2009Artigo -
3
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD) by Kathrin Burgmaier, Samuel Kilian, Bert Bammens, Thomas Benzing, Heiko Billing, Anja Büscher, Matthias Galiano, Franziska Grundmann, Günter Klaus, Djalila Mekahli, Laurence Michel‐Calemard, Gordana Miloševski‐Lomić, Bruno Ranchin, Katja Sauerstein, Susanne Schaefer, Rukshana Shroff, Rosalie Sterenborg, Sarah Verbeeck, Lutz T. Weber, Dorota Wicher, Elke Wühl, Jörg Dötsch, Franz Schaefer, Max C. Liebau
Published 2019Artigo -
4
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase by Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres
Published 2009Artigo -
5
Evaluation of Gonadal Function in 107 Intersex Patients by Means of Serum Antimüllerian Hormone Measurement<sup>1</sup> by Rodolfo A. Rey, Corinne Belville, Claire Nihoul‐Feketé, Laurence Michel‐Calemard, Maguelone G. Forest, Najiba Lahlou, Francis Jaubert, I Mowszowicz, M David, Nurçin Saka, Claire Bouvattier, Anne‐Marie Bertrand, C Lecointre, S. Soskin, Sylvie Cabrol, H. Crosnier, Juliane Léger, Stephen Lortat‐Jacob, Marc Nicolino, Wolfgang Rabl, S. P. A. Toledo, Firdevs Baş, Anne Gompel, Paul Czernichow, Pierre Chatelain, Raphaël Rappaport, Yves Morel, Nathalie Josso
Published 1999Artigo
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Biology
Gene
Genetics
Internal medicine
Medicine
Endocrinology
Autosomal Recessive Polycystic Kidney Disease
Cirrhosis
Genotype
Gonadal dysgenesis
Missense mutation
Mutation
Phenotype
Polycystic kidney disease
Adrenal insufficiency
Anti-Müllerian hormone
Bioinformatics
Computational biology
Computer science
Congenital hepatic fibrosis
Cystic fibrosis
Database
Disease
Fetus
Genotype-phenotype distinction
Gestational age
Haploinsufficiency
Hepatorenal syndrome
Hormone
Kidney