Výsledky vyhledávání - Ute Grasshoff

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  1. 1
    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature Autor Matthias Begemann, Sabrina Spengler, Magdalena Gogiel, Ute Grasshoff, Michael Bonin, Regina C. Betz, Andreas Dufke, Isabel Spier, Thomas Eggermann

    Vydáno 2012
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  2. 2
    Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

    Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression Autor Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Wohlleber, Emilia K. Bijlsma, Susan Holder, Martin Zenker, Eva Rossier, Ute Grasshoff, Diana Johnson, Lisa Robertson, Helen V. Firth, Cornelia Kraus, Arif B. Ekici, André Reis, Anita Rauch

    Vydáno 2010
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  3. 3
    Mapping translocation breakpoints by next-generation sequencing

    Mapping translocation breakpoints by next-generation sequencing Autor Wei Chen, Vera M. Kalscheuer, Andreas Tzschach, Corinna Menzel, Reinhard Ullmann, Marcel H. Schulz, Fikret Erdogan, Na Li, Zofia Kijas, Ger J. A. Arkesteijn, I. López Pajares, Margret Goetz-Sothmann, Uwe Heinrich, Imma Rost, Andreas Dufke, Ute Grasshoff, Birgitta Glaeser, Martin Vingron, Hans‐Hilger Ropers

    Vydáno 2008
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  4. 4
    Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

    Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition Autor Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck‐Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B. Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M. Strom, Hermann‐Josef Lüdecke, Dagmar Wieczorek

    Vydáno 2016
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  5. 5
    Transgenic rat model of Huntington's disease

    Transgenic rat model of Huntington's disease Autor S. von Horsten, Ina Schmitt, Huu Phuc Nguyen, Carsten Holzmann, Thorsten Schmidt, Thomas Walther, Michael Bäder, Reinhard Pabst, Philipp Kobbe, J. Krotova, Detlef Stiller, Ants Kask, Annika Vaarmann, Silvia Rathke‐Hartlieb, Jörg B. Schulz, Ute Grasshoff, Ingrid Bauer, Ana Vieira‐Saecker, Matthias Paul, L. Jones, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Andreas Bauer, Xing Li, Olaf Rieß

    Vydáno 2003
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  6. 6
    Next-generation sequencing in X-linked intellectual disability

    Next-generation sequencing in X-linked intellectual disability Autor Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl‐Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Rieß, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Rieß, Peter Bauer

    Vydáno 2015
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  7. 7
    Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

    Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study Autor Dominic McMullan, Michael Bonin, Jayne Y. Hehir‐Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Rieß, Özge Altug-Teber, H. Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith Walker, Catherine V. Lamb, E. V. Davison, Louise Brueton, Olaf Rieß, Joris A. Veltman

    Vydáno 2009
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  8. 8
    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors Autor Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, W. Schröder, Guntram Borck, Knut Brockmann, Miriam Elbracht, Christine Fauth, A. Ferbert, Leonie Freudenberg, Ute Grasshoff, Yorck Hellenbroich, Wolfram Henn, Sabine Hoffjan, Irina Hüning, Georg-Christoph Korenke, Peter M. Kroisel, Erdmute Kunstmann, Martina Mair, Susanne Munk‐Schulenburg, Omid Nikoubashman, Silke Pauli, Sabine Rudnik–Schöneborn, Irene Sudholt, Ulrich Sure, Sigrid Tinschert, Michaela Wiednig, Barbara Zoll, Mark H. Ginsberg, Ute Felbor

    Vydáno 2014
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  9. 9
    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases Autor Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G. Stühn, Miriam Bertrand, Amelie J. Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Françoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, T. Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Rieß, Katarína Štingl, Tobias B. Haack

    Vydáno 2023
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  10. 10
    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals Autor Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, Tzung‐Chien Hsieh, Alexandra Afenjar, Stefanie Beck‐Wödl, Ute Grasshoff, Tobias B. Haack, Emilia K. Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K. Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch‐Hogrebe, Kevin Rostásy, Vanesa López‐González, María José Sánchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J. Kaiser, Alma Kuechler

    Vydáno 2023
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  11. 11
    Bi-allelic loss-of-function variants in<i>KIF21A</i>cause severe fetal akinesia with arthrogryposis multiplex

    Bi-allelic loss-of-function variants in<i>KIF21A</i>cause severe fetal akinesia with arthrogryposis multiplex Autor Ruth Falb, Amelie J. Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff, Stephanie Spranger, Petra Stöbe, Darja Gauck, Alma Kuechler, Nicola Dikow, Eva Maria Christina Schwaibold, Christoph Q. Schmidt, Luisa Averdunk, Rebecca Buchert, T. Heinrich, Natalia Prodan, Joohyun Park, Martin Kehrer, Marc Sturm, Olga Kelemen, Silke Hartmann, Denise Horn, Dirk Emmerich, Nina Hirt, Armin Neumann, Glen Kristiansen, U. Gembruch, Susanne Haen, Reiner Siebert, Sabine Hentze, Markus Hoopmann, Stephan Ossowski, Stephan Waldmüller, Stefanie Beck‐Wödl, Dieter Gläser, I. Tekesin, Felix Distelmaier, Olaf Rieß, Karl-Oliver Kagan, Andreas Dufke, Tobias B. Haack

    Vydáno 2021
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  12. 12
    ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

    ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations Autor Lucia Laugwitz, Fubo Cheng, Stephan C. Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung‐Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stéphanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizi Malamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, A Ghamari Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Rieß, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B. Haack

    Vydáno 2024
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  13. 13
    Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients

    Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients Autor Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich, Jan Marco Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Dürr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter De Jonghe, Willem De Ridder, Matthieu Béreau, Stephanie Demuth, Christos Ganos, A. Nazlı Başak, Haşmet Hanağası, Semra Hız Kurul, Benjamin Bender, Lüdger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horváth, Bart van de Warrenburg, Lydie Bürglen, Christelle Rougeot, Claire Ewenczyk, Michel Kœnig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias B. Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik

    Vydáno 2020
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  14. 14
    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 Autor 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

    Vydáno 2018
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