检索结果 - Line Borgwardt

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  1. 1

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

    发表在 Genetics in Medicine Open (2023-01-01)
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  2. 2

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

    发表在 Genetics in Medicine Open (2023-01-01)
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  3. 3

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

    发表在 BMC Medical Genomics (2024-01-01)
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  4. 4

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

    发表在 Orphanet Journal of Rare Diseases (2020-09-01)
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  5. 5

    Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 由 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

    发表在 Frontiers in Endocrinology (2021-12-01)
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  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... 由 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

    发表在 Frontiers in Immunology (2022-06-01)
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  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... 由 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

    发表在 AIDS Research and Therapy (2024-05-01)
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  8. 8

    Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis 由 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

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