Resultados da busca - Mathilde Nizon

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  1. 1
    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias por Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean‐Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean‐Paul Bonnefont, Cécile Acquaviva, Jean‐François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay

    Publicado em 2013
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  2. 2
    Penetrance, variable expressivity and monogenic neurodevelopmental disorders

    Penetrance, variable expressivity and monogenic neurodevelopmental disorders por Servane de Masfrand, Benjamin Cogné, Mathilde Nizon, Wallid Deb, Alice Goldenberg, François Lecoquierre, Gaël Nicolas, Marie Bournez, Antonio Vitobello, Frédéric Tran Mau‐Them, Gwenaël Le Guyader, Frédéric Bilan, Peter Bauer, Christiane Zweier, Juliette Piard, Laurent Pasquier, Stéphane Bézieau, Bénédicte Gérard, Laurence Faivre, Pascale Saugier‐Veber, Amélie Piton, Bertrand Isidor

    Publicado em 2024
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  3. 3
    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients por David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux

    Publicado em 2017
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  4. 4
    Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

    Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome por Caroline Alby, Kevin Piquand, Céline Huber, André Mégarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traoré, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget‐Darpoux, Arnold Münnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier‐Daire, Tania Attié‐Bitach, Sophie Thomas

    Publicado em 2015
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  5. 5
    Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

    Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis por Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tüysüz, Bassam Abu‐Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al‐Gazali, Sarenur Yilmaz Basaran, Jill Clayton‐Smith, Julie Désir, Harinder Gill, Marie T. Greally, Erkan Koparir, Merel C. van Maarle, Sara MacKay, Geert Mortier, Jenny Morton, David Sillence, Catheline Vilain, Ian Young, Klaus Zerres, Martine Le Merrer, Arnold Münnich, Carine Le Goff, Antonio Rossi, Valérie Cormier‐Daire

    Publicado em 2012
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  6. 6
    Delineating <i>FOXG1</i> syndrome

    Delineating <i>FOXG1</i> syndrome por Nancy Végas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Élise Schaefer, Tally Lerman‐Sagie, Dorit Lev, Magalie Barth, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Héron, Mathieu Milh, S. Rondeau, Caroline Michot, Stéphanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leïla Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Bénédicte Pontier, Baptiste Troude, François Rivier, Christophe Philippe, Thierry Bienvenu, Marie‐Aude Spitz, Amandine Béry, Nadia Bahi‐Buisson

    Publicado em 2018
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  7. 7
    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability por Rosalind Verheije, Gabriel S. Kupchik, Bertrand Isidor, Hester Y. Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D. Gelb, Jamal Ghoumid, Guylaine D’Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw‐Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane‐Yeboa, Gaetana Cerbone, Jill Clayton‐Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cédric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah‐Politi, Nicholas Stong, Tim M. Strom, Ellen van Binsbergen, Koenraad Devriendt, Jeroen Breckpot

    Publicado em 2018
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  8. 8
    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation por Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Élodie Lejeune, Valérie Olin, Marta Massimello, Daphné Lehalle, L. Mouthon, Sandra Whalen, Anne Faudet, Cyril Mignot, Cathérine Garel, Éléonore Blondiaux, Mathilde Lefebvre, Geneviève Quenum-Miraillet, Sandra Chantot‐Bastaraud, Mathieu Milh, Florence Bretelle, Vincent des Portes, Laurent Guibaud, Audrey Putoux, V. Tsatsaris, Marta Spodenkiewic, Valérie Layet, Rodolphe Dard, Laurent Mandelbrot, Agnès Guët, Sébastien Moutton, Magali Gorce, Mathilde Nizon, Marie Vincent, Claire Bénéteau, Marie-Amélie Rocchisanni, Alexandra Benachi, Julien Saada, Tania Attié‐Bitach, Lucie Guilbaud, P Maurice, Stéphanie Friszer, Jean‐Marie Jouannic, Thierry Billette de Villemeur, Marie‐Laure Moutard, Boris Keren, Delphine Héron

    Publicado em 2020
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  9. 9
    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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  10. 10
    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features por Christel Thauvin‐Robinet, Aurore Garde, M Favier, Julian Delanne, Caroline Racine, Thierry Rousseau, Sophie Nambot, Ange‐Line Bruel, Sébastien Moutton, Chloé Quēlin, Cindy Colson, Anne‐Claire Bréhin, Anne-Marie Guerrot, Caroline Rooryck, Audrey Putoux, Patricia Blanchet, Sylvie Odent, Élise Schaefer, Odile Boute, Alice Goldenberg, Agnès Guichet, Carine Abel, Godeliève Morel, Mélanie Fradin, Bertrand Isidor, Marie Vincent, Christine Francannet, Gabriella Vera, Florence Petit, Mathilde Nizon, Constance Wells, Médéric Jeanne, Caroline Deiller, Alban Ziegler, Manon Godin, Pascale Saugier‐Veber, Kévin Cassinari, Pierre Blanc, E. Simon, Christine Binquet, Yannis Duffourd, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran Mau‐Them, Nicolas Bourgon

    Publicado em 2025
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  11. 11
    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants por Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin–Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

    Publicado em 2018
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  12. 12
    Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

    Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development por Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna Lobach, Alexandra Afenjar, Dusica Babovic‐Vuksanovic, Stéphane Bézieau, Patrick R. Blackburn, Jens Bunt, Lydie Bürglen, Philippe M. Campeau, Perrine Charles, Brian Hon‐Yin Chung, Benjamin Cogné, Cynthia J. Curry, Daniela D’Agostino, Nataliya Di Donato, Laurence Faivre, Delphine Héron, A. Micheil Innes, Bertrand Isidor, Boris Keren, Amy Kimball, Eric W. Klee, Paul Kuentz, Sébastien Küry, Dominique Martin–Coignard, Ghayda Mirzaa, Cyril Mignot, Noriko Miyake, Naomichi Matsumoto, Atsushi Fujita, Caroline Nava, Mathilde Nizon, Diana Rodriguez, Lot Snijders Blok, Christel Thauvin‐Robinet, Julien Thévenon, Marie Vincent, Alban Ziegler, William B. Dobyns, Linda J. Richards, A. James Barkovich, Stephen N. Floor, Debra L. Silver, Elliott H. Sherr

    Publicado em 2020
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  13. 13
    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder por Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Éric Bieth, Laurence Perrin‐Sabourin, Marie‐Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne‐Sophie Denommé‐Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter‐Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor

    Publicado em 2017
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  14. 14
    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder por Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin Cogné

    Publicado em 2022
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  15. 15
    Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

    Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool por Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Hana Safraou, Ange‐Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent‐Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godeliève Morel, Mélanie Fradin, Alinoë Lavillaureix, Chloé Quēlin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne‐Marie Guerrot, Anne‐Claire Bréhin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre‐Yves Maillard, Frédérique Payet, Marie‐Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Émilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin‐Robinet

    Publicado em 2023
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  16. 16
    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies por Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

    Publicado em 2018
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  17. 17
    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia por Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann

    Publicado em 2025
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  18. 18
    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features por 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

    Publicado em 2018
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  19. 19
    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior por Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu

    Publicado em 2021
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  20. 20
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita por 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

    Publicado em 2021
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