Suchergebnisse - Damien Lederer

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  1. 1
    Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

    Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome von Damien Lederer, Bernard Grisart, M. Cristina Digilio, Valérie Benoît, Marianne Crespin, S. Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen‐Dumoulin

    Veröffentlicht 2011
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  2. 2
    Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures

    Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures von Marie‐Coralie Cornet, Valeria Morabito, Damien Lederer, Hannah C. Glass, Susana Ferrão Santos, Adam L. Numis, Donna M. Ferriero, Tristan T. Sands, Maria Roberta Cilio

    Veröffentlicht 2021
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  3. 3
    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability

    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability von Michael Parker, Alan Fryer, Deborah Shears, Katherine Lachlan, Shane McKee, Alex Magee, Shehla Mohammed, Pradeep Vasudevan, Soo‐Mi Park, Valérie Benoît, Damien Lederer, Isabelle Maystadt, DDD Study, David Fitzpatrick

    Veröffentlicht 2015
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  4. 4
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum

    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum von Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie‐Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoît, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gécz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier

    Veröffentlicht 2016
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  5. 5
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening von Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gâtinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Marjan De Rademaeker, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean‐Stéphane Gatot, Bernard Grisart, Katrien Janssens, Sandra Janssens, Damien Lederer, Axel Marichal, Björn Menten, Colombine Meunier, Léonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Vermeesch

    Veröffentlicht 2021
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  6. 6
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 von Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Veröffentlicht 2021
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  7. 7
    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity von Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radley, Nicola Ragge, Sixto García‐Miñaúr, Pablo Lapunzina, María Palomares‐Bralo, María Ángeles Mori, Stéphanie Moortgat, Valérie Benoît, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K. Vaux, Nataliya Di Donato, Andrea Hanson‐Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalová, Markéta Havlovičová, Miroslava Hančárová, Magdalena Budişteanu, Annelies Dheedene, Björn Menten, Patrick A. Dion, Damien Lederer, Bert Callewaert

    Veröffentlicht 2017
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  8. 8
    <i>STXBP1</i> encephalopathy

    <i>STXBP1</i> encephalopathy von 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

    Veröffentlicht 2016
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  9. 9
    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype

    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype von Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp, Katie Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H. Brilstra, Oebele F. Brouwer, Petra M.C. Callenbach, Julia Hentschel, Édouard Hirsch, Peter C. Kind, Cyril Mignot, Konrad Platzer, P. Rump, Paul Skehel, David J. A. Wyllie, Giles E. Hardingham, Conny M.A. van Ravenswaaij‐Arts, Gaëtan Lesca, Johannes R. Lemke, Alexis Arzimanoglou, Paul B. Augustijn, Patrick Van Bogaert, Helene Bourry, Peter Burfeind, Yoyo W. Y. Chu, Brian Chung, Diane Doummar, Patrick Edery, Aviva Fattal‐Valevski, Mélanie Fradin, Marion Gérard, Christa de Geus, Boudewijn Gunning, Danielle Hasaerts, Ingo Helbig, Katherine L. Helbig, Rami Abou Jamra, Mélanie Jennesson Lyver, Jolien S. Klein Wassink‐Ruiter, David A. Koolen, Damien Lederer, Roelineke J. Lunsing, Mikaël Mathot, Hélène Maurey, Shay Menascu, Anne Michel, Ghayda Mirzaa, Diana Mitter, Hiltrud Muhle, Rikke S. Møller, Caroline Nava, Margaret O’Brien, Evelyn van Pinxteren-Nagler, Anne van Riesen, Christelle Rougeot, Damien Sanlaville, Jolanda Schieving, Steffen Syrbe, Hermine E. Veenstra‐Knol, Nienke E. Verbeek, Dorothée Ville, Yvonne J. Vos, Pascal Vrielynck, Sabrina Wagner, Sarah Weckhuysen, Marjolein H. Willemsen

    Veröffentlicht 2018
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  10. 10
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders von 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

    Veröffentlicht 2017
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  11. 11
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients von Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Veröffentlicht 2018
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  12. 12
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome von 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

    Veröffentlicht 2018
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