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Borgwardt, Line
70
results:
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Online (70)
Mediatypes
Articles (Online) (37)
OpenAccess-fulltext (33)
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1
The association between single-nucleotide polymorphisms wit..:
Mørup, Sara Bohnstedt
;
Leung, Preston
;
Reilly, Cavan
...
AIDS Research and Therapy. 21 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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2
Long-term efficacy of velmanase alfa treatment in patients ..:
Guffon, Nathalie
;
Borgwardt, Line
;
Tylki-Szymańska, Anna
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107866 , 2024
Link:
https://doi.org/10.1016/..
?
3
Whole genome sequencing in clinical practice:
Bagger, Frederik Otzen
;
Borgwardt, Line
;
Jespersen, Andreas Sand
...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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4
P004: Real-world clinical profiles of patients with alpha-m..:
Muschol, Nicole
;
Guffon, Nathalie
;
Ballabeni, Andrea
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100014 , 2023
Link:
https://doi.org/10.1016/..
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5
O02: Baseline characteristics of a real-world population wi..:
Muschol, Nicole
;
Guffon, Nathalie
;
Ballabeni, Andrea
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100003 , 2023
Link:
https://doi.org/10.1016/..
?
6
A novel DOCK2 variant in siblings with severe combined immu..:
Bruusgaard‐Mouritsen, Maria Anna
;
Masmas, Tania
;
Borgwardt, Line
...
Scandinavian Journal of Immunology. 97 (2023) 3 - p. , 2023
Link:
https://doi.org/10.1111/..
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7
Real-world clinical profiles of patients with alpha-mannosi..:
Muschol, Nicole M.
;
Guffon, Nathalie
;
Ballabeni, Andrea
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107232 , 2023
Link:
https://doi.org/10.1016/..
?
8
Baseline characteristics of a real-world population with al..:
Guffon, Nathalie
;
Muschol, Nicole M.
;
Ballabeni, Andrea
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107130 , 2023
Link:
https://doi.org/10.1016/..
?
9
Life-threatening viral disease in a novel form of autosomal..:
Duncan, Christopher J.A.
;
Skouboe, Morten K.
;
Howarth, Sophie
...
Journal of Experimental Medicine. 219 (2022) 6 - p. , 2022
Link:
https://doi.org/10.1084/..
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10
Severe weight loss in a hypothyroid patient as an acute pre..:
Silajdzija, Elvira
;
Bliddal, Sofie
;
Borgwardt, Line
...
Hormones. 21 (2022) 2 - p. 317-322 , 2022
Link:
https://doi.org/10.1007/..
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11
Added Value of Reanalysis of Whole Exome- and Whole Genome ..:
Mørup, Sara Bohnstedt
;
Nazaryan-Petersen, Lusine
;
Gabrielaite, Migle
...
Frontiers in Immunology. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
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12
Effect of velmanase alfa (human recombinant alpha-mannosida..:
Lund, Allan
;
Guffon, Nathalie
;
Gil-Campos, Mercedes
...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S67 , 2021
Link:
https://doi.org/10.1016/..
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13
Germline RET Leu56Met Variant Is Likely Not Causative of Mu..:
Hansen, Anna Reimer
;
Borgwardt, Line
;
Rasmussen, Åse Krogh
...
Frontiers in Endocrinology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
14
Concomitant familial hypocalciuric hypercalcemia and single..:
Marstrand, Simone Diedrichsen
;
Tofteng, Charlotte Landbo
;
Jarløv, Anne
..
Journal of Medical Case Reports. 15 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
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15
Case Report: Hyper IgM Syndrome Identified by Whole Genome ..:
Drabe, Camilla Heldbjerg
;
Marvig, Rasmus L.
;
Borgwardt, Line
...
Frontiers in Immunology. 11 (2020) - p. , 2020
Link:
https://doi.org/10.3389/..
1-15