檢索結果 - Emmanuelle Ginglinger

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  1. 1
    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway 由 Christèle Dubourg, Wilfrid Carré, Houda Hamdi‐Rozé, Charlotte Mouden, J. Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes, Laurence Faivre-Olivier, Emmanuelle Ginglinger, Marie Gonzalès, Annie Levy‐Mozziconacci, Sally Ann Lynch, Sophie Naudion, Laurent Pasquier, Amélie Poidvin, Fabienne Prieur, Pierre Sarda, Annick Toutain, Valérie Dupé, Linda Akloul, Sylvie Odent, Marie de Tayrac, Véronique David

    出版 2016
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  2. 2
    De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

    De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 由 Xiangbin Jia, S. Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J. McMillan, Alexandre White‐Brown, Kendra Hoekzema, Raphael Bernier, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Claartje Meddens, Mariëlle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo

    出版 2022
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  3. 3
    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement 由 Megana Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michaël Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, D Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller‐Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean‐Luc Davideau, Tiphaine Davit‐Béal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean‐Pierre Duprez, Sylvie Odent, Isabelle Bailleul‐Forestier, M. Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, S. Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel De La Dure‐Molla, Yves Alembik, C Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, M.C. Manière, Hélène Dollfus, Agnès Bloch‐Zupan

    出版 2015
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  4. 4
    Genetic Landscape of a Large Cohort of Primary Ovarian Insufficiency: New Genes and Pathways and Implications for Personalized Medicine

    Genetic Landscape of a Large Cohort of Primary Ovarian Insufficiency: New Genes and Pathways and Implications for Personalized Medicine 由 Abdelkader Heddar, Çağrı Oğur, Sabrina Corrêa da Costa, Inès Braham, Line Billaud-Rist, Necati Findlinki, Claire Bénéteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin Durnerin, Adèle Cantaloube, Maëliss Peigné, Marion Bretault, Bénédicte Dagher Hayeck, Sandrine Pérol, Céline Droumaguet, Sabri Cavkaytar, Carole Nicolas Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier Le Masle, Mélanie Fradin, Elsa Le Boette, Perrine Luigi, Anne‐Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anaïs Fauconnier, Nathalie Auger, Françoise Paris, Elise Boucher, Christelle Cabrol, A. Brun, Laura Guyon, Melanie Berard, Axelle Rivière, Marion Gérard, Sylvie Odent, Brigitte Gilbert‐Dussardier, Bertrand Isidor, Juliette Piard, Laëtitia Lambert, S. Hamamah, Anne Marie Guedj, Aude Brac de la Perrière, Bertrand Godeau, H. Fernandez, Marie-Laure Raffin Sanson, Michel Polak, H. Letur, Sylvie Epelboin, Geneviève Plu‐Bureau, Sławomir Wołczyński, S. Hiéronimus, Kristiina Aittomäki, Sophie Catteau-Jonard, Micheline Misrahi

    出版 2022
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  5. 5
    Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

    Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine 由 Abdelkader Heddar, Çağrı Oğur, Sabrina Corrêa da Costa, Inès Braham, Line Billaud-Rist, Necati Fındıklı, Claire Bénéteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cédrin‐Durnerin, Adèle Cantalloube, Maëliss Peigné, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Pérol, Céline Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Mélanie Fradin, Elsa Le Boette, Perrine Luigi, Anne‐Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anaïs Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux‐Boucher, Christelle Cabrol, A. Brun, Laura Guyon, Melanie Berard, Axelle Rivière, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert‐Dussardier, Bertrand Isidor, Juliette Piard, Laëtitia Lambert, S. Hamamah, Anne Marie Guedj, Aude Brac de la Perrière, H. Fernandez, Marie‐Laure Raffin‐Sanson, Michel Polak, H. Letur, Sylvie Epelboin, Geneviève Plu‐Bureau, Sławomir Wołczyński, S. Hiéronimus, Kristiina Aittomäki, Sophie Catteau-Jonard, Micheline Misrahi

    出版 2022
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  6. 6
    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations 由 Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta

    出版 2013
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