檢索結果 - Valérie Cormier‐Daire

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  1. 1
    New perspectives on the treatment of skeletal dysplasia

    New perspectives on the treatment of skeletal dysplasia 由 Pauline Marzin, Valérie Cormier‐Daire

    出版 2020
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  2. 2
    Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia

    Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia 由 Alessandra Guasto, Valérie Cormier‐Daire

    出版 2021
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  3. 3
    Sotos syndrome

    Sotos syndrome 由 Geneviève Baujat, Valérie Cormier‐Daire

    出版 2007
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  4. 4
    The ADAMTS(L) family and human genetic disorders

    The ADAMTS(L) family and human genetic disorders 由 Carine Le Goff, Valérie Cormier‐Daire

    出版 2011
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  5. 5
    Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations

    Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations 由 Guntram Borck, Mohamed Zarhrate, Jean‐Paul Bonnefont, Arnold Münnich, Valérie Cormier‐Daire, Laurence Colleaux

    出版 2007
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  6. 6
    Genotypes and Phenotypes of Children with SHOX Deficiency in France

    Genotypes and Phenotypes of Children with SHOX Deficiency in France 由 Myriam Rosilio, Céline Huber, Hélène Sapin, Jean‐Claude Carel, Werner Blum, Valérie Cormier‐Daire

    出版 2012
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  7. 7
    Role of cholesterol in embryonic development

    Role of cholesterol in embryonic development 由 Charles Roux, Claude Wolf, N Mulliez, Wassila Gaoua, Valérie Cormier‐Daire, Françoise Chevy, D. Citadelle

    出版 2000
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  8. 8
    Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

    Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). 由 Agnès Rötig, Valérie Cormier‐Daire, Pierre Chatelain, R François, Jean‐Marie Saudubray, Pierre Rustin, Arnold Münnich

    出版 1993
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  9. 9
    Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

    Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia 由 S. Heuertz, Martine Le Merrer, Bernhard Zabel, Michael Wright, Laurence Legeai‐Mallet, Valérie Cormier‐Daire, Linda Gibbs, Jacky Bonaventure

    出版 2006
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  10. 10
    Elements of morphology: Standard terminology for the nose and philtrum

    Elements of morphology: Standard terminology for the nose and philtrum 由 Raoul C. M. Hennekam, Valérie Cormier‐Daire, Judith G. Hall, K Méhes, Michael A. Patton, Roger E. Stevenson

    出版 2009
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  11. 11
    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome 由 Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Münnich, Nigel P. Carter, Valérie Cormier‐Daire, Laurence Colleaux

    出版 2006
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  12. 12
    Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

    Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy 由 Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valérie Cormier‐Daire, Arnold Münnich, Jean‐Paul Bonnefont, Pierre Rustin, Agnès Rötig

    出版 2000
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  13. 13
    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome 由 Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Münnich, Christine Gicquel, Valérie Cormier‐Daire, Laurence Colleaux

    出版 2004
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  14. 14
    XYLT1 Mutations in Desbuquois Dysplasia Type 2

    XYLT1 Mutations in Desbuquois Dysplasia Type 2 由 Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire

    出版 2014
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  15. 15
    A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency

    A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency 由 Jürgen‐Christoph von Kleist-Retzow, Valérie Cormier‐Daire, Pascale de Lonlay, Béatrice Parfait, Dominique Chrétien, Pierre Rustin, Josué Feingold, Agnès Rötig, Arnold Münnich

    出版 1998
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  16. 16
    Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

    Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome 由 François Cartault, Patrick Munier, Marie‐Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray, Christine Payet, Hanitra Randrianaivo, J.-M. Laville, Arnold Münnich, Valérie Cormier‐Daire

    出版 2014
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  17. 17
    Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

    Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency 由 Paule Bénit, Dominique Chrétien, N. Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier‐Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Münnich, Agnès Rötig

    出版 2001
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  18. 18
    Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

    Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. 由 Agnès Rötig, Valérie Cormier‐Daire, Stéphane Blanche, Jean‐Paul Bonnefont, F Ledeist, Norma B. Romero, J. Schmitz, Pierre Rustin, Alain Fischer, Jean‐Marie Saudubray

    出版 1990
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  19. 19
    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia 由 Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valérie Cormier‐Daire, Sarah M. Nikkel, Gen Nishimura, Sheila Unger, Jürgen W. Spranger, Andrea Superti‐Furga, Bernhard Zabel

    出版 2009
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  20. 20
    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome 由 Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire

    出版 2004
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