検索結果 - Jonas Denecke

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  1. 1
    Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation

    Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation 著者: Johannes Boettcher, Jonas Denecke, Claus Barkmann, Silke Wiegand‐Grefe

    出版事項 2020
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    Artigo
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  2. 2
    Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder 著者: Frederike L. Harms, Katja Kloth, Annette Bley, Jonas Denecke, René Santer, Davor Lessel, Maja Hempel, Kerstin Kutsche

    出版事項 2018
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    Artigo
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  3. 3
    A homozygous<i>ZMPSTE24</i>null mutation in combination with a heterozygous mutation in the<i>LMNA</i>gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

    A homozygous<i>ZMPSTE24</i>null mutation in combination with a heterozygous mutation in the<i>LMNA</i>gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pat... 著者: Jonas Denecke, Thomas Brune, Tobias Feldhaus, Horst Robenek, Christian Kranz, Richard J. Auchus, Anil K. Agarwal, Thorsten Marquardt

    出版事項 2006
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    Artigo
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  4. 4
    Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I

    Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I 著者: Christian Kranz, Jonas Denecke, Ludwig Lehle, Kristina Sohlbach, Stefanie Jeske, Friedhelm Meinhardt, Rainer Rossi, Sonja Gudowius, Thorsten Marquardt

    出版事項 2004
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    Artigo
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  5. 5
    Individual blood–brain barrier phenylalanine transport determines clinical outcome in phenylketonuria

    Individual blood–brain barrier phenylalanine transport determines clinical outcome in phenylketonuria 著者: J. Weglage, Dirk Wiedermann, Jonas Denecke, Reinhold Feldmann, Hans‐Georg Koch, Kurt Ullrich, Erik Harms, Harald E. Möller

    出版事項 2001
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    Artigo
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  6. 6
    Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study

    Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study 著者: Jana Zang, Deike Weiss, Charlotte Dumitrascu, Julia Glinzer, Marie Wegner, Anna Strube, Jonas Denecke, Almut Nießen, Christina Pflug

    出版事項 2025
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    Artigo
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  7. 7
    Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures

    Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures 著者: Christiane K. Bauer, Fanny Kortüm, Anna Möllring, Lev Grinstein, Jonas Denecke, Malik Alawi, Robert Bähring, Frederike L. Harms

    出版事項 2025
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    Artigo
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  8. 8
    Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

    Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization 著者: Stefanie Weber, Christina Landwehr, Miriam Renkert-Baudis, Alexander Hoischen, Elke Wühl, Jonas Denecke, Bernhard Radlwimmer, Dieter Haffner, Franz Schaefer, Ruthild G. Weber

    出版事項 2010
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    Artigo
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  9. 9
    Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter

    Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter 著者: Yvonne Helmus, Jonas Denecke, Sviatlana Yakubenia, Peter N. Robinson, Kerstin Lühn, Diana L. Watson, Paraic McGrogan, Dietmar Vestweber, Thorsten Marquardt, Martin K. Wild

    出版事項 2006
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    Artigo
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  10. 10
    A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

    A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy 著者: Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans-Gerd Kehl, Erik Harms, A. D. Reith, Sonja Reichel, H Gröbe, G. Hammersen, Ulrich Schwarzer, Thorsten Marquardt

    出版事項 2007
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    Artigo
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  11. 11
    A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

    A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) 著者: Christian Kranz, Jonas Denecke, Mark A. Lehrman, Sutapa Ray, Petra Kienz, Gunilla Kreissel, Dijana Šagi, Jasna Peter‐Katalinić, Hudson H. Freeze, Thomas Schmid, Sabine Jackowski-Dohrmann, Erik Harms, Thorsten Marquardt

    出版事項 2001
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    Artigo
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  12. 12
    Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

    Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany 著者: Astrid Pechmann, Thorsten Langer, David Schorling, Sabine Stein, Sibylle Emilie Vogt, Ulrike Schara, Heike Kölbel, Oliver Schwartz, Andreas Hahn, Kerstin Giese, Jessika Johannsen, Jonas Denecke, Claudia Weiß, Manuela Theophil, Janbernd Kirschner

    出版事項 2018
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    Artigo
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  13. 13
    Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

    Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia 著者: J. Weglage, Michael Pietsch, Reinhold Feldmann, Hans-Georg Koch, Johannes Zschocke, Georg F. Hoffmann, Anja Muntau-Heger, Jonas Denecke, Per Guldberg, Flemming Güttler, Harald E. Möller, U. Wendel, Kurt Ullrich, Erik Harms

    出版事項 2001
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    Artigo
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  14. 14
    Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life

    Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life 著者: Paula Steffens, Deike Weiss, Anna Perez, Manuel Appel, P. Weber, Claudia Weiß, Corinna Stoltenburg, Ute Ehinger, Maja von der Hagen, Jens Schallner, B Claussen, Ilka Lode, Andreas Hahn, Rahel Schuler, Lena Ruß, Andreas Ziegler, Jonas Denecke, Jessika Johannsen

    出版事項 2024
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    Artigo
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  15. 15
    Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease

    Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease 著者: Sina Kristin Stumpf, Stefan A. Berghoff, Andrea Trevisiol, Lena Spieth, Tim Düking, Lennart V. Schneider, Lennart Schlaphoff, Steffi Dreha‐Kulaczewski, Annette Bley, Dinah Burfeind, Kathrin Kusch, Mišo Mitkovski, Torben Ruhwedel, Philipp Guder, Heiko Röhse, Jonas Denecke, Jutta Gärtner, Wiebke Möbius, Klaus‐Armin Nave, Gesine Saher

    出版事項 2019
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    Artigo
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  16. 16
    Phenotypic and molecular insights into CASK-related disorders in males

    Phenotypic and molecular insights into CASK-related disorders in males 著者: 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

    出版事項 2015
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    Artigo
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  17. 17
    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders 著者: Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero, Stefanie M. Geisler, Simone Pelizzari, Abeltje M. Polstra, Johanna M. van Hagen, Jonas Denecke, Marta Campiglio, Klaus R. Liedl, Cathy A. Stevens, Richard Person, Stefan Rentas, Eric D. Marsh, Laura K. Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E. Flucher

    出版事項 2021
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    Artigo
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  18. 18
    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment 著者: Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D. Lichtenbelt, Johanna C. Herkert, Jonas Denecke, Tobias B. Haack, Alexander M. Zink, Jessica Becker, Eva Wohlleber, Jessika Johannsen, Bader Alhaddad, Rolph Pfundt, Sigrid Fuchs, Dagmar Wieczorek, Tim M. Strom, Koen L.I. van Gassen, Tjitske Kleefstra, Christian Kubisch, Hartmut Engels, Davor Lessel

    出版事項 2015
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    Artigo
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  19. 19
    Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

    Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization 著者: Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Ütine, Tanju Özkan, Jonas Denecke, Jurica Vuković, Maja Di Rocco, Hanna Mandel, Hakan Cangül, Randolph P. Matthews, Steven G. Thomas, Joshua Z. Rappoport, Irwin M. Arias, Hartwig Wolburg, A. S. Knisely, Déirdre Kelly, Ferenc Müller, Eamonn R. Maher, Paul Gissen

    出版事項 2010
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    Artigo
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  20. 20
    Management Strategies for CLN2 Disease

    Management Strategies for CLN2 Disease 著者: Ruth Williams, Heather Adams, Martin Blohm, Jessica Cohen‐Pfeffer, Emily de los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A. Lawson, Lenora Lehwald, Mary-Anne Leung, Svetlana Mikhaylova, Jonathan W. Mink, Miriam Nickel, Renée Shediac, Katherine B. Sims, Nicola Specchio, Meral Topçu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz

    出版事項 2017
    全文の入手
    Revisão
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