Rezultati pretrage - Anne‐Lise Delezoide
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Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Tr... od Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga
Izdano 1996Artigo -
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Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia od Laurence Legeai‐Mallet, Catherine Benoist-Lasselin, Anne‐Lise Delezoide, Arnold Münnich, Jacky Bonaventure
Izdano 1998Artigo -
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Negative Fetal FSH/LH Regulation in Late Pregnancy Is Associated with Declined Kisspeptin/KISS1R Expression in the Tuberal Hypothalamus od Fabien Guimiot, L. Chevrier, Sophie Dreux, Didier Chevenne, Alain Caraty, Anne Lise Delezoïde, Nicolás de Roux
Izdano 2012Artigo -
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Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction1 od John J. Wysolmerski, Sarah Cormier, William M. Philbrick, Pamela Dann, Jianping Zhang, J. Roume, Anne‐Lise Delezoide, Caroline Silve
Izdano 2001Artigo -
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Low Renal Mineralocorticoid Receptor Expression at Birth Contributes to Partial Aldosterone Resistance in Neonates od Lætitia Martinerie, Say Viengchareun, Anne‐Lise Delezoide, Francis Jaubert, Martine Sinico, Sophie Prévôt, Pascal Boileau, Geri Méduri, Marc Lombès
Izdano 2009Artigo -
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Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient od D. Mahieu‐Caputo, A. Meulemans, Jéléna Martinovic, Marie‐Claire Gubler, Anne‐Lise Delezoide, Françoise Müller, Patrick Madélénat, Nicholas M. Fisk, Marc Dommergues
Izdano 2005Artigo -
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Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus od 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
Izdano 2006Artigo -
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Dynamics of Thymus-Colonizing Cells during Human Development od Rima Haddad, Fabien Guimiot, Emmanuelle Six, Frédéric Jourquin, Niclas Setterblad, Edmond Kahn, Micaël Yagello, Cécile Schiffer, Isabelle André‐Schmutz, Marina Cavazzana, Jean Claude Gluckman, Anne‐Lise Delezoide, Françoise Pflumio, Bruno Canque
Izdano 2006Artigo -
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Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease od 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
Izdano 2009Artigo -
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Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer’s Disease Adults od Sara Cipriani, Isidró Ferrer, Eleonora Aronica, Gábor G. Kovács, Catherine Verney, Jeannette Nardelli, Suonavy Khung, Anne‐Lise Delezoide, Ivan Milenković, Sowmyalakshmí Rasika, Philippe Manivet, Jean‐Louis Bénifla, Nicolas Deriot, Pierre Gressèns, Homa Adle‐Biassette
Izdano 2018Artigo -
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Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia od Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, L. Masini, F. Piro, G Maragliano, Anne‐Lise Delezoide, Tania Attié‐Bitach, Sylvie Manouvrier‐Hanu, Heather Etchevers, Patrick Calvas
Izdano 2009Artigo -
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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III od Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire
Izdano 2009Artigo -
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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia od Céline Huber, Eissa Faqeih, Deborah Bartholdi, Christine Bôle‐Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschké, J. Roume, Heloísa G. dos Santos, Stavit Shalev, Andrea Superti‐Furga, Anne‐Lise Delezoide, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire
Izdano 2012Artigo -
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RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects od Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon
Izdano 2011Artigo -
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Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry od Sarah Beaussant-Cohen, Odile Fenneteau, Emmanuel Plouvier, Pierre‐Simon Rohrlich, G Daltroff, Isabelle Plantier, A. Dupuy, Delphine Kérob, Blandine Beaupain, Pierre Bordigoni, Fanny Fouyssac, Anne‐Lise Delezoide, Gilles Devouassoux, Jean‐François Nicolas, Philippe Bensaïd, Yves Bertrand, Karl Balabanian, Christine bellanne Chantelot, Françoise Bachelerie, Jean Donadieu
Izdano 2012Artigo
Alati za pretragu:
Povezani predmeti
Biology
Genetics
Medicine
Gene
Internal medicine
Endocrinology
Anatomy
Mutation
Phenotype
Fetus
Pregnancy
Cell biology
Pathology
Kidney
Pediatrics
Polydactyly
Receptor
Blood pressure
Cartilage
Dysplasia
Genotype
Hormone
Missense mutation
Renin–angiotensin system
Agenesis
CHARGE syndrome
Cancer research
Chemistry
Ciliopathy
Cilium