Torthaí cuardaigh - Anne‐Lise Delezoide

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  1. 1
    Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Transporter

    Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Tr... de réir Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga

    Foilsithe / Cruthaithe 1996
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  2. 2
    Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia

    Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia de réir Laurence Legeai‐Mallet, Catherine Benoist-Lasselin, Anne‐Lise Delezoide, Arnold Münnich, Jacky Bonaventure

    Foilsithe / Cruthaithe 1998
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  3. 3
    Biometry of Face and Brain in Fetuses with Trisomy 21

    Biometry of Face and Brain in Fetuses with Trisomy 21 de réir Anne-Marie Guihard-Costa, Suonavy Khung, Kathy Delbecque, Françoise Ménez, Anne‐Lise Delezoide

    Foilsithe / Cruthaithe 2005
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  4. 4
    Negative Fetal FSH/LH Regulation in Late Pregnancy Is Associated with Declined Kisspeptin/KISS1R Expression in the Tuberal Hypothalamus

    Negative Fetal FSH/LH Regulation in Late Pregnancy Is Associated with Declined Kisspeptin/KISS1R Expression in the Tuberal Hypothalamus de réir Fabien Guimiot, L. Chevrier, Sophie Dreux, Didier Chevenne, Alain Caraty, Anne Lise Delezoïde, Nicolás de Roux

    Foilsithe / Cruthaithe 2012
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  5. 5
    Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

    Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions de réir Luís Teixeira, Fabien Guimiot, Catherine Dodé, Catherine Fallet‐Bianco, Robert P. Millar, Anne‐Lise Delezoide, Jean‐Pierre Hardelin

    Foilsithe / Cruthaithe 2010
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  6. 6
    Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification

    Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification de réir Anne‐Lise Delezoide, Catherine Benoist-Lasselin, Laurence Legeai‐Mallet, Martine Le Merrer, Arnold Münnich, Michel Vekemans, Jacky Bonaventure

    Foilsithe / Cruthaithe 1998
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  7. 7
    Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

    Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) de réir François Rousseau, Vincent El Ghouzzi, Anne‐Lise Delezoide, Laurence Legeai‐Mallet, M Le Merrer, A Munnich, Jacky Bonaventure

    Foilsithe / Cruthaithe 1996
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  8. 8
    Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction1

    Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction1 de réir John J. Wysolmerski, Sarah Cormier, William M. Philbrick, Pamela Dann, Jianping Zhang, J. Roume, Anne‐Lise Delezoide, Caroline Silve

    Foilsithe / Cruthaithe 2001
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  9. 9
    Low Renal Mineralocorticoid Receptor Expression at Birth Contributes to Partial Aldosterone Resistance in Neonates

    Low Renal Mineralocorticoid Receptor Expression at Birth Contributes to Partial Aldosterone Resistance in Neonates de réir Lætitia Martinerie, Say Viengchareun, Anne‐Lise Delezoide, Francis Jaubert, Martine Sinico, Sophie Prévôt, Pascal Boileau, Geri Méduri, Marc Lombès

    Foilsithe / Cruthaithe 2009
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  10. 10
    Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient

    Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient de réir D. Mahieu‐Caputo, A. Meulemans, Jéléna Martinovic, Marie‐Claire Gubler, Anne‐Lise Delezoide, Françoise Müller, Patrick Madélénat, Nicholas M. Fisk, Marc Dommergues

    Foilsithe / Cruthaithe 2005
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  11. 11
    Twin-to-Twin Transfusion Syndrome

    Twin-to-Twin Transfusion Syndrome de réir D. Mahieu‐Caputo, Marc Dommergues, Anne‐Lise Delezoide, Mireille Lacoste, Yi Cai, Françoise Narcy, Dominique Jolly, Marie Gonzalès, Yves Dumez, Marie‐Claire Gubler

    Foilsithe / Cruthaithe 2000
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  12. 12
    Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus

    Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus de réir 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

    Foilsithe / Cruthaithe 2006
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  13. 13
    Dynamics of Thymus-Colonizing Cells during Human Development

    Dynamics of Thymus-Colonizing Cells during Human Development de réir 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

    Foilsithe / Cruthaithe 2006
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  14. 14
    Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

    Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease de réir 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

    Foilsithe / Cruthaithe 2009
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  15. 15
    Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer’s Disease Adults

    Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer’s Disease Adults de réir 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

    Foilsithe / Cruthaithe 2018
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  16. 16
    Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

    Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia de réir 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

    Foilsithe / Cruthaithe 2009
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  17. 17
    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III de réir 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

    Foilsithe / Cruthaithe 2009
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  18. 18
    Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

    Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia de réir 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

    Foilsithe / Cruthaithe 2012
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  19. 19
    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects de réir 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

    Foilsithe / Cruthaithe 2011
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  20. 20
    Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

    Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry de réir 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

    Foilsithe / Cruthaithe 2012
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