Resultados da pesquisa - Geneviève Pierquin

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  1. 1
    Kinetochore KMN network gene CASC5 mutated in primary microcephaly

    Kinetochore KMN network gene CASC5 mutated in primary microcephaly Por Anna Genin, Julie Désir, Nelle Lambert, Martine Biervliet, Nathalie Van der Aa, Geneviève Pierquin, Audrey Killian, M. Tosi, María Teresa Urbina, Anne Lefort, Frédérick Libert, Isabelle Pirson, Marc Abramowicz

    Publicado em 2012
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  2. 2
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update Por Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Publicado em 2017
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  3. 3
    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Por Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin–Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux‐Coëslier, Sylvie Manouvrier, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attié‐Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Élise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laëtitia Lambert, Bruno Leheup, Jéléna Martinovic, Sandra Mercier, Cyril Mignot, Marie‐Laure Moutard, M. Laguía Pérez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szaskon, Annick Toutain, Alain Verloès, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean Laplanche, Corinne Collet

    Publicado em 2015
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  4. 4
    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes Por Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thévenon, Laurence Jego, Estelle Lopez, Jean‐François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Bürglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert‐Dussardier, Bruno Reversade, Elisabeth Steichen‐Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie M.H.F. Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St‐Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier‐Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz‐Pérez, Jaclyn S. Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attié‐Bitach, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    Publicado em 2017
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