Suchergebnisse - "Borgwardt, Line"

PubPharm (48)

1

Whole genome sequencing in clinical practice

enthalten in: BMC medical genomics | 2024

von Bagger, F. | Borgwardt, L. | Jespersen, A. | +4

2

Whole genome sequencing in clinical practice

enthalten in: BMC medical genomics | 2024

von Bagger, F. | Borgwardt, L. | Jespersen, A. | +4

3

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis

enthalten in: JIMD reports | 2023

von Borgwardt, L. | Ceravolo, F. | Zardi, G. | +2

4

A novel DOCK2 variant in siblings with severe combined immunodeficiency

enthalten in: Scandinavian journal of immunology | 2023

von Bruusgaard-Mouritsen, M. | Masmas, T. | Borgwardt, L. | +4

5

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis

enthalten in: JIMD Reports | 2023

von Borgwardt, L. | Ceravolo, F. | Zardi, G. | +2

6

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

enthalten in: ResearchSquare.com | 2022

von Hennermann, J. | Guffon, N. | Cattaneo, F. | +6

7

The SPARKLE registry: a multicenter, multinational, noninterventional, prospective cohort registry study in patients with alpha-mannosidosis

enthalten in: ResearchSquare.com | 2022

von Hennermann, J. | Guffon, N. | Cattaneo, F. | +6

8

Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II

enthalten in: Hormones (Athens, Greece) | 2022

von Silajdzija, E. | Bliddal, S. | Borgwardt, L. | +4

9

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

enthalten in: The Journal of experimental medicine | 2022

von Duncan, C. | Skouboe, M. | Howarth, S. | +34

CommentIn: J Exp Med. 2022 Jun 6;219(6):. - PMID 35486090

10

Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II

enthalten in: Hormones | 2022

von Silajdzija, E. | Bliddal, S. | Borgwardt, L. | +4

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