Søgeresultater - Christina Evers

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  1. 1
    Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

    Impact of clinical exomes in neurodevelopmental and neurometabolic disorders af Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lilian Kaufmann, Christine Fischer, Christian Thiel, Thomas Opladen, Urania Kotzaeridou, Stefan Wiemann, Matthias Schlesner, Roland Eils, Stefan Kölker, Claus R. Bartram, Georg F. Hoffmann, Ute Moog

    Udgivet 2017
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  2. 2
    <i>DDX3X</i> mutations in two girls with a phenotype overlapping Toriello–Carey syndrome

    <i>DDX3X</i> mutations in two girls with a phenotype overlapping Toriello–Carey syndrome af Nicola Dikow, Martin Granzow, Luitgard Graul‐Neumann, Stephanie Karch, Katrin Hinderhofer, Nagarajan Paramasivam, Laura‐Jane Behl, Lilian Kaufmann, Christine Fischer, Christina Evers, Matthias Schlesner, Roland Eils, Guntram Borck, Christiane Zweier, Claus R. Bartram, John C. Carey, Ute Moog

    Udgivet 2017
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  3. 3
    Phenotypic and molecular insights into CASK-related disorders in males

    Phenotypic and molecular insights into CASK-related disorders in males af Ute Moog, Tatjana Bierhals, K. Gerhard Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, C E de Die-Smulders, Christina Evers, Maja Hempel, Marco Henneke, Helger G. Yntema, Björn Menten, Joachim Pietz, Rolph Pfundt, Jörg Schmidtke, Doris Steinemann, Constance T. R. M. Stumpel, Lionel Van Maldergem, Kerstin Kutsche

    Udgivet 2015
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  4. 4
    Central 22q11.2 deletions

    Central 22q11.2 deletions af Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Udgivet 2014
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  5. 5
    Next-generation sequencing in X-linked intellectual disability

    Next-generation sequencing in X-linked intellectual disability af 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

    Udgivet 2015
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  6. 6
    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation af Karim Kouz, Christina Lißewski, Stephanie Spranger, Diana Mitter, Angelika Rieß, Vanesa López‐González, Sabine Lüttgen, Hatip Aydın, Florian von Deimling, Christina Evers, Andreas Hahn, Maja Hempel, Ulrike Issa, Anne‐Karin Kahlert, A. Lieb, Pablo Villavicencio‐Lorini, María Juliana Ballesta‐Martínez, Sheela Nampoothiri, Angela Ovens‐Raeder, Alena Puchmajerová, Robin Satanovskij, Heide Seidel, Stephan Unkelbach, Bernhard Zabel, Kerstin Kutsche, Martin Zenker

    Udgivet 2016
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  7. 7
    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability af Izak Johannes Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, M.W. Wessels, P J Willems, Peter Bjødstrup Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt‐Robinson, Maja Linné, Patricia Martín, James McGrath, Winnie Pradel, Katrina Prescott, Bernd Roesler, Goražd Rudolf, Ulrike Siebers‐Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, G. Wolff, William B. Dobyns, Deborah Morris‐Rosendahl

    Udgivet 2012
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  8. 8
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis af Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung‐Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven A. Skinner, Raymond J. Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endzinienė, Fanny Kortüm, Natasha J. Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne G. Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter Krawitz

    Udgivet 2018
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  9. 9
    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections af Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P. T. Kruithof, Hanka Venselaar, Loretha Myers, Steven Laga, Alexander Doyle, Gretchen Oswald, Gert W. A. van Cappellen, Itaru Yamanaka, R.M. van der Helm, Berna Beverloo, Annelies de Klein, Luba M. Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Brüggenwirth, Frans W. Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert M.W. Hofstra, Marie‐José Goumans, Jos A. Bekkers, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart Loeys

    Udgivet 2015
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