検索結果 - Michel Goossens

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  1. 1
    In Silico Prediction of the Deleterious Effect of a Mutation: Proceed with Caution in Clinical Genetics

    In Silico Prediction of the Deleterious Effect of a Mutation: Proceed with Caution in Clinical Genetics 著者: Dimitri Tchernitchko, Michel Goossens, Henri Wajcman

    出版事項 2004
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    Artigo
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  2. 2
    Expression and binding properties of two isoforms of the human growth hormone receptor

    Expression and binding properties of two isoforms of the human growth hormone receptor 著者: Marie‐Laure Sobrier, Philippe Duquesnoy, Bénédicte Duriez, Serge Amselem, Michel Goossens

    出版事項 1993
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    Artigo
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  3. 3
    Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene<sup>1</sup>

    Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene<sup>1</sup> 著者: Irène Netchine, Philippe Talon, Florence Dastot, F. Vitaux, Michel Goossens, Serge Amselem

    出版事項 1998
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    Artigo
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  4. 4
    Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution

    Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution 著者: Jacques Pantel, Kalotina Machinis, Marie‐Laure Sobrier, Philippe Duquesnoy, Michel Goossens, Serge Amselem

    出版事項 2000
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    Artigo
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  5. 5
    Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients

    Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients 著者: Kirsten Kuhlbrodt, Claudia Schmidt, Elisabeth Sock, Véronique Pingault, Nadège Bondurand, Michel Goossens, Michael Wegner

    出版事項 1998
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    Artigo
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  6. 6
    Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome

    Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome 著者: Asma Chaoui, Yuli Watanabe, Renaud Touraine, Viviane Baral, Michel Goossens, Véronique Pingault, Nadège Bondurand

    出版事項 2011
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    Artigo
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  7. 7
    Review and update of mutations causing Waardenburg syndrome

    Review and update of mutations causing Waardenburg syndrome 著者: Véronique Pingault, D. Ente, Florence Dastot‐Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand

    出版事項 2010
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    Revisão
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  8. 8
    Mixed blood chimerism in T cell-depleted bone marrow transplant recipients: evaluation using DNA polymorphisms

    Mixed blood chimerism in T cell-depleted bone marrow transplant recipients: evaluation using DNA polymorphisms 著者: Stéphane Bretagne, Michel Vidaud, Mathieu Kuentz, Catherine Cordonnier, Tawfiq Henni, G Vinci, Michel Goossens, Vernant Jp

    出版事項 1987
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    Artigo
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  9. 9
    A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

    A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. 著者: Michel Vidaud, Renata Gattoni, James Stévenin, Dominique Vidaud, Serge Amselem, Jemni Ben Chibani, JP Rosa, Michel Goossens

    出版事項 1989
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    Artigo
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  10. 10
    Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

    Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. 著者: Serge Amselem, Marie‐Laure Sobrier, Philippe Duquesnoy, R Rappaport, M C Postel-Vinay, M Gourmelen, Bruno Dallapiccola, Michel Goossens

    出版事項 1991
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    Artigo
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  11. 11
    Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

    Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection 著者: Claude Danan, Damien Sternberg, André Van Steirteghem, Cécile Cazeneuve, Philippe Duquesnoy, Claude Besmond, Michel Goossens, Willy Lissens, Serge Amselem

    出版事項 1999
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    Artigo
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  12. 12
    COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking

    COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking 著者: Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, N. Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen

    出版事項 2011
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    Artigo
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  13. 13
    Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

    Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. 著者: Alain Hovnanian, Philippe Duquesnoy, C Blanchet‐Bardon, Robert G. Knowlton, Serge Amselem, Mark Lathrop, L Dubertret, Jouni Uitto, Michel Goossens

    出版事項 1992
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    Artigo
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  14. 14
    Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta

    Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta 著者: JP Farcet, Philippe Gaulard, JP Marolleau, JP Le Couedic, Tawfiq Henni, MF Gourdin, Marine Diviné, Corinne Haïoun, Serge Zafrani, Michel Goossens

    出版事項 1990
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    Artigo
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  15. 15
    Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

    Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and i... 著者: Ilham Ratbi, Marie Legendre, Florence Niel, Josiane Martin, Jean-Claude Soufir, Vincent Izard, Bruno Costes, Cathérine Costa, Michel Goossens, Emmanuelle Girodon

    出版事項 2007
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    Artigo
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  16. 16
    Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

    Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia 著者: Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin, Anne-Marie Bridoux, Valère Cacheux, Gilles Roger, Annick Clément, Michel Goossens, Serge Amselem, Bénédicte Duriez

    出版事項 1999
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    Artigo
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  17. 17
    Expression of the <i>SOX10</i> gene during human development

    Expression of the <i>SOX10</i> gene during human development 著者: Nadège Bondurand, Alexandra Kobetz, Véronique Pingault, N Lemort, Férechté Encha‐Razavi, G Couly, Derk E. Goerich, Michael Wegner, Marc Abitbol, Michel Goossens

    出版事項 1998
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    Artigo
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  18. 18
    A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

    A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies 著者: Nadège Bondurand, Kirsten Kuhlbrodt, Véronique Pingault, Janna Enderich, M. Sajus, Niels Tommerup, Mette Warburg, Raoul C. M. Hennekam, Andrew Read, Michael Wegner, Michel Goossens

    出版事項 1999
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    Artigo
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  19. 19
    A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

    A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activit... 著者: Philippe Duquesnoy, Marie‐Laure Sobrier, Bénédicte Duriez, Florence Dastot, C R Buchanan, Martin O. Savage, Michael A. Preece, Constantin T. Craescu, Y. Blouquit, Michel Goossens

    出版事項 1994
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    Artigo
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  20. 20
    Human Prop‐1: cloning, mapping, genomic structure

    Human Prop‐1: cloning, mapping, genomic structure 著者: Philippe Duquesnoy, Anne Roy, Florence Dastot, Isis Ghali, Cécile Teinturier, Irène Netchine, Valère Cacheux, Mona Hafez, Nermine Salah, Jean‐Louis Chaussain, Michel Goossens, Pierre Bougnères, Serge Amselem

    出版事項 1998
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    Artigo
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