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Bertelsen, Birgitte
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Online (72)
Mediatypes
Articles (Online) (36)
OpenAccess-fulltext (36)
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1
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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2
Thyrotoxic periodic paralysis in a Caucasian man without id..:
Heydorn, Arne
;
Bertelsen, Birgitte
;
Nolsöe, Rúna Louise Mortansdóttir
..
Thyroid Research. 16 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
3
Whole genome sequencing and disease pattern in patients wit..:
Jelsig, Anne Marie
;
van Overeem Hansen, Thomas
;
Gede, Lene Bjerring
...
Familial Cancer. 22 (2023) 4 - p. 429-436 , 2023
Link:
https://doi.org/10.1007/..
?
4
Survival, surveillance, and genetics in patients with Peutz..:
Jelsig, Anne Marie
;
van Overeem Hansen, Thomas
;
Gede, Lene Bjerring
...
Clinical Genetics. 104 (2023) 1 - p. 81-89 , 2023
Link:
https://doi.org/10.1111/..
?
5
New pathogenic germline variants identified in mesothelioma:
Belcaid, Laila
;
Bertelsen, Birgitte
;
Wadt, Karin
...
Lung Cancer. 179 (2023) - p. 107172 , 2023
Link:
https://doi.org/10.1016/..
?
6
ENIGMACHEK2gether Project: A Comprehensive Study Identifies..:
Stolarova, Lenka
;
Kleiblova, Petra
;
Zemankova, Petra
...
Clinical Cancer Research. 29 (2023) 16 - p. 3037-3050 , 2023
Link:
https://doi.org/10.1158/..
?
7
Distinct gastric phenotype in patients with pathogenic vari..:
Jelsig, Anne Marie
;
Qvist, Niels
;
Bertelsen, Birgitte
...
Endoscopy International Open. 10 (2022) 12 - p. E1537-E1543 , 2022
Link:
https://doi.org/10.1055/..
?
8
ConstitutionalPOLEvariants causing a phenotype reminiscent ..:
Sehested, Astrid
;
Meade, Julia
;
Scheie, David
...
Human Mutation. 43 (2021) 1 - p. 85-96 , 2021
Link:
https://doi.org/10.1002/..
?
9
NEXMIF encephalopathy: an X-linked disorder with male and f..:
Stamberger, Hannah
;
Hammer, Trine B.
;
Gardella, Elena
...
Genetics in Medicine. 23 (2021) 2 - p. 363-373 , 2021
Link:
https://doi.org/10.1038/..
?
10
Two cases of somatic STK11 mosaicism in Danish patients wit..:
Jelsig, Anne Marie
;
Bertelsen, Birgitte
;
Forss, Isabel
.
Familial Cancer. 20 (2020) 1 - p. 55-59 , 2020
Link:
https://doi.org/10.1007/..
?
11
The Spectrum of FANCM Protein Truncating Variants in Europe..:
Figlioli, Gisella
;
Kvist, Anders
;
Tham, Emma
...
Cancers. 12 (2020) 2 - p. 292 , 2020
Link:
https://doi.org/10.3390/..
?
12
High frequency of pathogenic germline variants within homol..:
Bertelsen, Birgitte
;
Tuxen, Ida Viller
;
Yde, Christina Westmose
...
npj Genomic Medicine. 4 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
13
Novel SUFU Frameshift Variant Leading to Meningioma in Thre..:
Askaner, Gustav
;
Lei, Ulrikke
;
Bertelsen, Birgitte
..
Case Reports in Genetics. 2019 (2019) - p. 1-5 , 2019
Link:
https://doi.org/10.1155/..
?
14
A germline chromothripsis event stably segregating in 11 in..:
Bertelsen, Birgitte
;
Nazaryan-Petersen, Lusine
;
Sun, Wei
...
Genetics in Medicine. 18 (2016) 5 - p. 494-500 , 2016
Link:
https://doi.org/10.1038/..
?
15
Germline Chromothripsis Driven by L1-Mediated Retrotranspos..:
Nazaryan-Petersen, Lusine
;
Bertelsen, Birgitte
;
Bak, Mads
...
Human Mutation. 37 (2016) 4 - p. 385-395 , 2016
Link:
https://doi.org/10.1002/..
1-15