Výsledky vyhledávání - Stefanie Beck‐Wödl

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  1. 1
    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)? Autor Stefanie Beck‐Wödl, K. Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, E. Latta, Axel Pagenstecher, Ursula Keber

    Vydáno 2018
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  2. 2
    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges Autor Vidiyaah Santhanakumaran, Samuel Groeschel, K. Harzer, Christiane Kehrer, Saskia Elgün, Stefanie Beck‐Wödl, Holger Hengel, Lüdger Schöls, Tobias B. Haack, Ingeborg Krägeloh‐Mann, Lucia Laugwitz

    Vydáno 2022
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  3. 3
    Phenotypic variation between siblings with Metachromatic Leukodystrophy

    Phenotypic variation between siblings with Metachromatic Leukodystrophy Autor Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck‐Wödl, Jennifer Just, Lüdger Schöls, Nicole I. Wolf, Ingeborg Krägeloh‐Mann, Samuel Groeschel

    Vydáno 2019
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  4. 4
    X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation Autor Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B. Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck‐Wödl, Sander B. Nabuurs, André B. P. Kuilenburg, Arjan PM de Brouwer, Lüdger Schöls

    Vydáno 2014
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  5. 5
    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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  6. 6
    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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  7. 7
    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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