Результаты поиска - Laurence Perrin

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  1. 1
    The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction

    The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction по Peter Kovermann, Allan Bayat, Christina Fenger, Lisette Leeuwen, Artem Borovikov, Artem Sharkov, Virginie Levrat, Gaëtan Lesca, Laurence Perrin, Jonathan Lévy, Christoph Fahlke, Rikke S. Møller, Anders A. Jensen

    Опубликовано 2025
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    Artigo
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  2. 2
    NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

    NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients по Michele Bertacchi, Anna Lisa Romano, Agnès Loubat, Frédéric Tran Mau‐Them, Marjolaine Willems, Laurence Faivre, Philippe Khau Van Kien, Laurence Perrin, Françoise Devillard, Arthur Sorlin, Paul Kuentz, Christophe Philippe, Aurore Garde, Francesco Neri, Rossella Di Giaimo, Salvatore Oliviero, Silvia Cappello, Ludovico D’Incerti, Carolina Frassoni, Michèle Studer

    Опубликовано 2020
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    Artigo
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  3. 3
    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes по Martine Doco‐Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie‐Ange Delrue, Joris Andrieux, Laurence Perrin‐Sabourin, Emilie Landais, Azzedine Aboura, Jacques Puechberty, Manon Girard, Magali Tournaire, Elodie Sanchez, Caroline Rooryck, Agnès Ameil, Michel Goossens, Philippe Jonveaux, Geneviève Lefort, Laurence Taine, Dorothée Cailley, Dominique Gaillard, Bruno Leheup, Pierre Sarda, David Geneviève

    Опубликовано 2013
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    Artigo
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  4. 4
    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly по Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus

    Опубликовано 2010
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    Artigo
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  5. 5
    The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

    The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients по Séverine Marcos, Julie Sarfati, Chrystel Leroy, Corinne Fouveaut, Philippe Parent, Chantal Metz, Sławomir Wołczyński, Marion Gérard, Éric Bieth, F Kurtz, O. Vérier‐Mine, Laurence Perrin, F. Archambeaud, Sylvie Cabrol, Patrice Rodien, Hanne Hove, Trine Prescott, Didier Lacombe, Sophie Christin-Maître, Philippe Touraine, S. Hiéronimus, Didier Dewailly, Jacques Young, Michel Pugeat, Jean‐Pierre Hardelin, Catherine Dodé

    Опубликовано 2014
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    Artigo
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  6. 6
    PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

    PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects по Aurélie Berland, Jérémie Rosain, Sophie Kaltenbach, Vincent Allain, Nizar Mahlaoui, Isabelle Melki, Alice Fiévet, Catherine Dubois d’Enghien, O Marie, Laurence Perrin, Nathalie Auger, Funda Çipe, Andrea Finocchi, Figen Doğu, Felipe Suárez, Despina Moshous, Thierry Leblanc, Alexandre Bélot, Claire Fieschi, David Boutboul, Marion Malphettes, Lionel Galicier, Éric Oksenhendler, Stéphane Blanche, Alain Fischer, Patrick Revy, Dominique Stoppa‐Lyonnet, Capucine Pïcard, Jean‐Pierre de Villartay

    Опубликовано 2018
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    Artigo
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  7. 7
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy по Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Опубликовано 2016
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    Artigo
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  8. 8
    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus по Matias Wagner, Jonathan Lévy, Sabine Jung‐Klawitter, Somayeh Bakhtiari, Fabíola Paoli Monteiro, Reza Maroofian, Tatjana Bierhals, Maja Hempel, Monique Elmaleh, João Paulo Kitajima, Chong Ae Kim, Júlia Salomão, David J. Amor, Monica S. Cooper, Laurence Perrin, Eva Pipiras, Axel Neu, Mohammad Doosti, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Henry Houlden, Sheng Chih Jin, Yue C., Lance H. Rodan, Hanka Venselaar, Michael C. Kruer, Fernando Kok, Georg F. Hoffmann, Tim M. Strom, Saskia B. Wortmann, Anne-Claude Tabet, Thomas Opladen

    Опубликовано 2020
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    Artigo
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  9. 9
    De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

    De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism по Illja J. Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot R.F. Reijnders, Alexander J.M. Dingemans, Rolph Pfundt, Anneke T. Vulto‐van Silfhout, Laurens Wiel, Christian Gilissen, Julien Thévenon, Laurence Perrin, Alexandra Afenjar, Caroline Nava, Boris Keren, Sarah Bartz, Bethany Peri, Gea Beunders, Nienke E. Verbeek, Koen L.I. van Gassen, Isabelle Thiffault, Maxime Cadieux‐Dion, Lina Huerta‐Saenz, Matias Wagner, Vassiliki Konstantopoulou, Julia Vodopiutz, Matthias Griese, Annekatrien Boel, Bert Callewaert, Han G. Brunner, Tjitske Kleefstra, Nicoline Hoogerbrugge, Bert B.A. de Vries, Vivian Hwa, Andrew Dauber, Jayne Y. Hehir‐Kwa, Roland P. Kuiper, Marjolijn C.J. Jongmans

    Опубликовано 2019
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    Artigo
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  10. 10
    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders по Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke Schuurs-Hoeijmakers, Jolien S. Klein Wassink‐Ruiter, Connie T. R. M. Stumpel, Servi J.C. Stevens, Hans S.H. Vles, Carlo Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michaël Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, A Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gérard, David Geneviève, Bruno Delobel, Daphné Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thévenon, Jozef Gécz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurélia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra

    Опубликовано 2016
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    Artigo
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  11. 11
    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments по Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kévin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Råstam, I. Carina Gillberg, Gudrun Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galán, Delphine Héron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiésa, François Rivier, Dominique Bonneau, Béatrice Regnault, Diana Zélénika, Marc Delépine, Mark Lathrop, Damien Sanlaville, Caroline Schluth–Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeißer, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron

    Опубликовано 2014
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    Revisão
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  12. 12
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome по Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron

    Опубликовано 2017
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    Artigo
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  13. 13
    Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

    Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals по Henri Margot, Guilaine Boursier, Claire Duflos, Elodie Sanchez, Jeanne Amiel, Jean‐Christophe Andrau, Stéphanie Arpin, Elise Brischoux‐Boucher, Odile Boute, Lydie Bürglen, Charlotte Caille, Yline Capri, Patrick Collignon, Solène Conrad, Valérie Cormier‐Daire, Geoffroy Delplancq, Klaus Dieterich, Hélène Dollfus, Mélanie Fradin, Laurence Faivre, Helder Fernandes, Christine Francannet, Vincent Gâtinois, Marion Gérard, Alice Goldenberg, Jamal Ghoumid, Sarah Grotto, Anne‐Marie Guerrot, Agnès Guichet, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Philippe Khau Van Kien, Marine Legendre, Kim‐Hanh Le Quan Sang, Bruno Leheup, Stanislas Lyonnet, Virginie Magry, Sylvie Manouvrier, Dominique Martin, Godeliève Morel, Arnold Münnich, Sophie Naudion, Sylvie Odent, Laurence Perrin, Florence Petit, Nicole Philip, Marlène Rio, Julie Robbe, Massimiliano Rossi, Elisabeth Sarrazin, Annick Toutain, Julien Van‐Gils, Gabriella Vera, Alain Verloès, Sacha Weber, Sandra Whalen, Damien Sanlaville, Didier Lacombe, Nathalie Aladjidi, David Geneviève

    Опубликовано 2019
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    Artigo
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  14. 14
    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 по 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

    Опубликовано 2017
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    Artigo
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  15. 15
    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases по Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei‐Chu Huang, Colleen M Longley, Hsiao‐Tuan Chao, Hyunglok Chung, Nele A. Haelterman, Oguz Kanca, Sathiyanarayanan Manivannan, Linda Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaëtan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frédéric Tran Mau‐Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto

    Опубликовано 2022
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    Artigo
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  16. 16
    De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

    De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitse... по Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Émilie Tisserant, Ange‐Line Bruel, Sara El Kennani, Joaquim Sá, Karen Low, Cristina Dias, Markéta Havlovičová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van‐Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gérard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen V. Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref‐Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin‐Robinet, Yannis Duffourd, Jaya K. George‐Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Vincenzo Nigro, Nicola Brunetti‐Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Annalaura Torella, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Sérgio B. Sousa, Raoul C. M. Hennekam, Bekim Sadiković, Julien Thevenon, Jérôme Govin, Antonio Vitobello, Nicola Brunetti‐Pierri

    Опубликовано 2020
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    Artigo
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  17. 17
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders по Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaëtan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot‐Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, María J. Miranda, Maja Hempel, Eva H. Brilstra, Nine Knoers, Nienke E. Verbeek, Marjan van Kempen, Kees P. J. Braun, Grazia M.S. Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily C. Wong‐Kisiel, Friedrich Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt‐Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, C. Finetti, Reinhard Brückner, Joachim Pietz, G. Golla, Dinesh Jillella, Karen Markussen Linnet, Perrine Charles, Ute Moog, Eve Õiglane‐Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, Georg-Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter De Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh‐Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller

    Опубликовано 2017
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    Artigo
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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 по 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

    Опубликовано 2018
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    Artigo
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  19. 19
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita по 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

    Опубликовано 2021
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    Artigo
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