Search Results - Catherine Vincent‐Delorme

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    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features by Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh

    Published 2018
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  15. 15

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita by Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki

    Published 2021
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  16. 16

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients by Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil

    Published 2013
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  17. 17

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome by Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Published 2018
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