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Brusgaard, Klaus
212  results:
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1

Identification of a founder variant AAGAB c.370C>T, p.Arg12..:

Gram, Stine Bjørn ; Jørgensen, Anne Sofie Fredberg ; Bygum, Anette..
Clinical Genetics.  105 (2024)  5 - p. 561-566 , 2024
Link: https://doi.org/10.1111/..
 
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2

CRISPR-Cas9-guided amplification-free genomic diagnosis for..:

Xu, Sijia ; Shiomi, Hiroki ; Yamashita, Yugo...
PLOS ONE.  19 (2024)  3 - p. e0297231 , 2024
Link: https://doi.org/10.1371/..
 
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3

Well-differentiated G1 and G2 pancreatic neuroendocrine tum..:

Andersen, Kirstine Øster ; Detlefsen, Sönke ; Brusgaard, Klaus.
Frontiers in Endocrinology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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4

Plantar keratoderma and curly hair as a diagnostic clue of ..:

Gram, Stine Bjørn ; Brusgaard, Klaus ; Bygum, Anette..
The Journal of Dermatology.  51 (2024)  5 - p. , 2024
Link: https://doi.org/10.1111/..
 
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5

Insulinoma in childhood: a retrospective review of 22 patie..:

Melikyan, Maria ; Gubaeva, Diliara ; Shadrina, Anna...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Bone Deformities and Kidney Failure: Coincidence of PHEX-Re..:

Nielsen, Simone Rask ; Hansen, Stinus Gadegaard ; Bistrup, Claus..
Calcified Tissue International.  111 (2022)  6 - p. 641-645 , 2022
Link: https://doi.org/10.1007/..
 
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7

Spatio-temporal dynamics of pathogenic variants associated ..:

Toncheva, Draga ; Marinova, Maria ; Borovska, Plamenka..
PLOS ONE.  17 (2022)  6 - p. e0269628 , 2022
Link: https://doi.org/10.1371/..
 
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8

Whole genome sequencing identifies rare genetic variants in..:

Tan, Ming ; Brusgaard, Klaus ; Gerdes, Anne‐Marie...
Annals of Human Genetics.  86 (2022)  4 - p. 195-206 , 2022
Link: https://doi.org/10.1111/..
 
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9

PHKA2 variants expand the phenotype of phosphorylase B kina..:

Benner, Anne ; Alhaidan, Yazeid ; Lines, Matthew A....
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 2959-2975 , 2021
Link: https://doi.org/10.1002/..
 
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10

New genes involved in Angelman syndrome-like: Expanding the..:

Aguilera, Cinthia ; Gabau, Elisabeth ; Ramirez-Mallafré, Ariadna...
PLOS ONE.  16 (2021)  10 - p. e0258766 , 2021
Link: https://doi.org/10.1371/..
 
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11

Transient congenital hyperinsulinism and hemolytic disease ..:

Riis, Sandra Simony Tornoe ; Joergensen, Marianne Hoerby ; Rasmussen, Kristina Fruerlund...
Journal of Medical Case Reports.  15 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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12

Su291 WHOLE GENOME SEQUENCING OF FIRST-DEGREE RELATIVES OF ..:

Tan, Ming ; Brusgaard, Klaus ; Gerdes, Anne-Marie A....
Gastroenterology.  160 (2021)  6 - p. S-662-S-663 , 2021
Link: https://doi.org/10.1016/..
 
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13

Cohort profile and heritability assessment of familial panc..:

Tan, Ming ; Brusgaard, Klaus ; Gerdes, Anne-Marie...
Scandinavian Journal of Gastroenterology.  56 (2021)  8 - p. 965-971 , 2021
Link: https://doi.org/10.1080/..
 
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14

Whole genome sequencing identifies rare germline variants e..:

Tan, Ming ; Brusgaard, Klaus ; Gerdes, Anne‐Marie...
Clinical Genetics.  100 (2021)  5 - p. 551-562 , 2021
Link: https://doi.org/10.1111/..
 
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15

Su293 HERITABILITY OF FAMILIAL PANCREATIC CANCER IN A DANIS..:

Tan, Ming ; Brusgaard, Klaus ; Gerdes, Anne-Marie A....
Gastroenterology.  160 (2021)  6 - p. S-663 , 2021
Link: https://doi.org/10.1016/..
 
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