Resultats de la cerca - Ina Schanze

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  1. 1
    In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser Syndrome

    In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser Syndrome per Dietmar Wolff, Sabine Endele, Silvia Azzarello‐Burri, Juliane Hoyer, Markus Zweier, Ina Schanze, Bernhard Schmitt, Anita Rauch, André Reis, Christiane Zweier

    Publicat 2011
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  2. 2
    Variants in nuclear factor I genes influence growth and development

    Variants in nuclear factor I genes influence growth and development per Martin Zenker, Jens Bunt, Ina Schanze, Denny Schanze, Michael Piper, Manuela Priolo, Erica H. Gerkes, Richard M. Gronostajski, Linda J. Richards, Julie Vogt, Marja W. Wessels, Raoul C. M. Hennekam

    Publicat 2019
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  3. 3
    Loss-of-function variants in HIVEP2 are a cause of intellectual disability

    Loss-of-function variants in HIVEP2 are a cause of intellectual disability per Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

    Publicat 2015
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  4. 4
    Genotype and phenotype spectrum of NRAS germline variants

    Genotype and phenotype spectrum of NRAS germline variants per Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

    Publicat 2017
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  5. 5
    Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

    Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes per Christian P. Kratz, Lude Franke, Harm Peters, Nicolai Kohlschmidt, Beata Kaźmierczak, Ulrich Finckh, August Bier, Birgit Eichhorn, Christian U. Blank, Cornelia Kraus, Jürgen Kohlhase, Silke Pauli, G. Wildhardt, Kerstin Kutsche, Bernd Auber, Alexander Christmann, Nadine Bachmann, Diana Mitter, F. W. Cremer, Karin Mayer, Cornelia Daumer‐Haas, Claudia Nevinny‐Stickel‐Hinzpeter, Frank Oeffner, Gregor Schlüter, Martin Genčík, B Überlacker, Christina Lißewski, Ina Schanze, Mark H. Greene, Claudia Spix, Martin Zenker

    Publicat 2015
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  6. 6
    NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

    NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly per Ina Schanze, Jens Bunt, Jonathan W. C. Lim, Denny Schanze, Ryan J. Dean, Mariëlle Alders, Patricia Blanchet, Tania Attié‐Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J. Bridges, Megan T. Cho, William B. Dobyns, Dian Donnai, Jessica Douglas, Dawn Earl, Timothy J. Edwards, Laurence Faivre, Brieana Fregeau, David Geneviève, Marion Gérard, Vincent Gâtinois, Muriel Holder‐Espinasse, Samuel Huth, Kosuke Izumi, Bronwyn Kerr, Elodie Lacaze, Phillis Lakeman, Sonal Mahida, Ghayda Mirzaa, Siân Morgan, C. Nowak, Hilde Peeters, Florence Petit, Daniela T. Pilz, Jacques Puechberty, Eyal Reinstein, Jean‐Baptiste Rivière, Avni Santani, Anouck Schneider, Elliott H. Sherr, Constance Smith‐Hicks, Ilse Wieland, Elaine H. Zackai, Xiaonan Zhao, Richard M. Gronostajski, Martin Zenker, Linda J. Richards

    Publicat 2018
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  7. 7
    <i>STXBP1</i> encephalopathy

    <i>STXBP1</i> encephalopathy per Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoît, M Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrèe, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen

    Publicat 2016
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  8. 8
    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care per Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura‐Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburović, Anna Kutkowska‐Kaźmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Barış Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpić, María Luisa Poch-Olivé, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W.E. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Śmigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczałuba, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

    Publicat 2018
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