Rezultati - 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 od Johannes Boettcher, Jonas Denecke, Claus Barkmann, Silke Wiegand‐Grefe

    Izdano 2020
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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 od Frederike L. Harms, Katja Kloth, Annette Bley, Jonas Denecke, René Santer, Davor Lessel, Maja Hempel, Kerstin Kutsche

    Izdano 2018
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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... od Jonas Denecke, Thomas Brune, Tobias Feldhaus, Horst Robenek, Christian Kranz, Richard J. Auchus, Anil K. Agarwal, Thorsten Marquardt

    Izdano 2006
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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 od Christian Kranz, Jonas Denecke, Ludwig Lehle, Kristina Sohlbach, Stefanie Jeske, Friedhelm Meinhardt, Rainer Rossi, Sonja Gudowius, Thorsten Marquardt

    Izdano 2004
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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 od J. Weglage, Dirk Wiedermann, Jonas Denecke, Reinhold Feldmann, Hans‐Georg Koch, Kurt Ullrich, Erik Harms, Harald E. Möller

    Izdano 2001
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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 od Jana Zang, Deike Weiss, Charlotte Dumitrascu, Julia Glinzer, Marie Wegner, Anna Strube, Jonas Denecke, Almut Nießen, Christina Pflug

    Izdano 2025
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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 od Christiane K. Bauer, Fanny Kortüm, Anna Möllring, Lev Grinstein, Jonas Denecke, Malik Alawi, Robert Bähring, Frederike L. Harms

    Izdano 2025
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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 od Stefanie Weber, Christina Landwehr, Miriam Renkert-Baudis, Alexander Hoischen, Elke Wühl, Jonas Denecke, Bernhard Radlwimmer, Dieter Haffner, Franz Schaefer, Ruthild G. Weber

    Izdano 2010
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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 od Yvonne Helmus, Jonas Denecke, Sviatlana Yakubenia, Peter N. Robinson, Kerstin Lühn, Diana L. Watson, Paraic McGrogan, Dietmar Vestweber, Thorsten Marquardt, Martin K. Wild

    Izdano 2006
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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 od 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

    Izdano 2007
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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) od 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

    Izdano 2001
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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 od 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

    Izdano 2018
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  13. 13
    Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

    Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia od 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

    Izdano 2001
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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 od 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

    Izdano 2024
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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 od 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

    Izdano 2019
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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 od 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

    Izdano 2015
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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 od 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

    Izdano 2021
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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 od 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

    Izdano 2015
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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 od 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

    Izdano 2010
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  20. 20
    Management Strategies for CLN2 Disease

    Management Strategies for CLN2 Disease od 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

    Izdano 2017
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