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Line Borgwardt

Showing results (11-20 of 26) with videos related to

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Molecular Genetics and Metabolism|May 3, 2018
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosisPaul Harmatz, Federica Cattaneo, Diego Ardigò, et al.
Frontiers in Endocrinology|December 20, 2021
Germline <i>RET</i> Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, et al.
Orphanet Journal of Rare Diseases|September 30, 2020
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosisJulia B Hennermann, Nathalie Guffon, Federica Cattaneo, et al.
Journal of Medical Genetics|October 24, 2025
Exploring the spectrum of central nervous system tumours in carriers of germline <i>POT1</i> variantsEmilie Neerup Nielsen, Anne Marie Jelsig, Jon Foss-Skiftesvik, et al.
World Journal of Clinical Cases|May 21, 2020
Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literatureElias Badal Rashu, Anders Ellekær Junker, Karen Vagner Danielsen, et al.
Molecular Genetics and Metabolism Reports|April 16, 2020
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosisDawn Phillips, Julia B Hennermann, Anna Tylki-Szymanska, et al.
American Journal of Medical Genetics. Part A|December 3, 2025
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic DiagnosticsEileen Wedge, Andreas Ørslev Rasmussen, Line Borgwardt, et al.
Orphanet Journal of Rare Diseases|June 7, 2015
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisationLine Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, et al.
Frontiers in Immunology|July 25, 2022
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 Variation CallingSara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, et al.
Frontiers in Immunology|January 19, 2026
Case Report: Possible C3 nephritic factor-driven complement-mediated severe hemolytic anemia and acute kidney injury in a child with <i>Bordetella parapertussis</i> infectionSteffen Ullitz Thorsen, Anne Todsen Hansen, Hans Jakob Hartling, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism|May 3, 2018
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosisPaul Harmatz, Federica Cattaneo, Diego Ardigò, et al.
Frontiers in Endocrinology|December 20, 2021
Germline <i>RET</i> Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, et al.
Orphanet Journal of Rare Diseases|September 30, 2020
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosisJulia B Hennermann, Nathalie Guffon, Federica Cattaneo, et al.
Journal of Medical Genetics|October 24, 2025
Exploring the spectrum of central nervous system tumours in carriers of germline <i>POT1</i> variantsEmilie Neerup Nielsen, Anne Marie Jelsig, Jon Foss-Skiftesvik, et al.
World Journal of Clinical Cases|May 21, 2020
Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literatureElias Badal Rashu, Anders Ellekær Junker, Karen Vagner Danielsen, et al.
Molecular Genetics and Metabolism Reports|April 16, 2020
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosisDawn Phillips, Julia B Hennermann, Anna Tylki-Szymanska, et al.
American Journal of Medical Genetics. Part A|December 3, 2025
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic DiagnosticsEileen Wedge, Andreas Ørslev Rasmussen, Line Borgwardt, et al.
Orphanet Journal of Rare Diseases|June 7, 2015
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisationLine Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, et al.
Frontiers in Immunology|July 25, 2022
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 Variation CallingSara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, et al.
Frontiers in Immunology|January 19, 2026
Case Report: Possible C3 nephritic factor-driven complement-mediated severe hemolytic anemia and acute kidney injury in a child with <i>Bordetella parapertussis</i> infectionSteffen Ullitz Thorsen, Anne Todsen Hansen, Hans Jakob Hartling, et al.
Pageof 3