Search Results - Line Borgwardt

  • Showing 1 - 8 results of 8
Refine Results
  1. 1

    P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry by Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  2. 2

    O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry* by Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  3. 3

    Whole genome sequencing in clinical practice by Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen

    Published in BMC Medical Genomics (2024-01-01)
    Get full text
    Article


  4. 4

    The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis by Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol

    Published in Orphanet Journal of Rare Diseases (2020-09-01)
    Get full text
    Article


  5. 5

    Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 by Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, Christian Godballe, Christian Godballe, Morten Møller Poulsen, Filipe G. Vieira, Jes Sloth Mathiesen, Jes Sloth Mathiesen, Maria Rossing, Maria Rossing

    Published in Frontiers in Endocrinology (2021-12-01)
    Get full text
    Article


  6. 6

    Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variatio... by Sara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, Joanne Reekie, Hanne V. Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Terese L. Katzenstein, Tania N. Masmas, Jens Lundgren, Jens Lundgren, Daniel D. Murray, Marie Helleberg, Marie Helleberg, Line Borgwardt

    Published in Frontiers in Immunology (2022-06-01)
    Get full text
    Article


  7. 7

    The association between single-nucleotide polymorphisms within type 1 interferon pathway genes and human immunodeficiency virus type 1 viral load in antiretroviral-naïve participan... by Sara Bohnstedt Mørup, Preston Leung, Cavan Reilly, Brad T. Sherman, Weizhong Chang, Maja Milojevic, Ana Milinkovic, Angelike Liappis, Line Borgwardt, Kathy Petoumenos, Roger Paredes, Shweta S. Mistry, Cameron R. MacPherson, Jens Lundgren, Marie Helleberg, Joanne Reekie, Daniel D. Murray, for the INSIGHT FIRST and START study groups

    Published in AIDS Research and Therapy (2024-05-01)
    Get full text
    Article


  8. 8

    Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis by Line Borgwardt MD, Nathalie Guffon MD, Yasmina Amraoui MD, Simon A. Jones MD, Linda De Meirleir MD, Allan M. Lund MD, Mercedes Gil-Campos MD, Johanna M. P. Van den Hout MD, Anna Tylki-Szymanska MD, Silvia Geraci MS, Diego Ardigò MD, PhD, Federica Cattaneo MD, Paul Harmatz MD, Dawn Phillips PT, MS, PhD

    Get full text
    Article


Search Tools: