検索結果 - Guylène Bertrand

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  1. 1
    Dominant-Negative<i>GCMB</i>Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism

    Dominant-Negative<i>GCMB</i>Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism 著者: Michael Mannstadt, Guylène Bertrand, Mihaela Mureşan, G. Weryha, Bruno Leheup, Sirish R. Pulusani, Bernard Grandchamp, Harald Jüppner, Caroline Silve

    出版事項 2008
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    Artigo
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  2. 2
    PTHR1 mutations associated with Ollier disease result in receptor loss of function

    PTHR1 mutations associated with Ollier disease result in receptor loss of function 著者: Alain Couvineau, Vinciane Wouters, Guylène Bertrand, Christiane Rouyer, Bénédicte Gerard, Laurence M. Boon, Bernard Grandchamp, Miikka Vikkula, Caroline Silve

    出版事項 2008
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    Artigo
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  3. 3
    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib 著者: Stéphanie Maupetit‐Mehouas, Virginie Mariot, Christelle Reynès, Guylène Bertrand, François Feillet, Jean‐Claude Carel, D. Simon, H. Bihan, Vincent Gajdos, Eglantine Ferrand Devouge, S. Shenoy, P. Agbo-Kpati, Anne Ronan, Catherine Naud-Saudreau, Anne Lienhardt, Caroline Silve, Agnès Linglart

    出版事項 2010
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    Artigo
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  4. 4
    Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

    Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma 著者: Anne‐Sophie Jannot, Roubila Meziani, Guylène Bertrand, Bénédicte Gérard, V. Descamps, A. Archimbaud, Catherine Picard, L. Ollivaud, Nicole Basset‐Séguin, Delphine Kérob, Guy Lanternier, Célèste Lebbé, Philippe Saïag, B. Crickx, Françoise Clerget‐Darpoux, Bernard Grandchamp, Nadem Soufir, Melan-Cohort

    出版事項 2005
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    Artigo
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  5. 5
    <i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

    <i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance 著者: Agnès Linglart, Helena Fryssira, Olaf Hiort, Paul-Martin Holterhus, Guiomar Pérez de Nanclares, Jesús Argente, Claudine Heinrichs, Alma Kuechler, Giovanna Mantovani, Bruno Leheup, Philippe Wicart, Virginie Chassot, Dorothée Schmidt, Oscar Rubio‐Cabezas, Annette Richter-Unruh, Sara Berrade, Arrate Pereda, Emese Boros, M.T. Muñoz-Calvo, Marco Castori, Yasemin Güneş, Guylène Bertrand, Pierre Bougnères, Éric Clauser, Caroline Silve

    出版事項 2012
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    Artigo
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