Klaus Brusgaard
Yakin Dogu Üniversitesi
H-index: 35
Asia-Cyprus
Top articles of Klaus Brusgaard
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk
The Journal of dermatology
2024/3/25
Klaus Brusgaard
H-Index: 21
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark
Clinical Genetics
2024/2/4
Klaus Brusgaard
H-Index: 21
Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia
2024/1/12
Klaus Brusgaard
H-Index: 21
Genetic testing of 76 families with palmoplantar keratoderma reveals a monogenic cause in more than 78%
European Journal of Human Genetics
2023
Klaus Brusgaard
H-Index: 21
A novel heterozygote LORICRIN variant in a father and daughter with palmoplantar keratoderma
European Journal of Human Genetics
2023
Klaus Brusgaard
H-Index: 21
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
Journal of Medical Genetics
2023/5/1
Klaus Brusgaard
H-Index: 21
Insulinoma in childhood: a retrospective review of 22 patients from one referral centre
Frontiers in Endocrinology
2023/4/19
Klaus Brusgaard
H-Index: 21
Sergey Makarov
H-Index: 32
En sjælden differentialdiagnose til vorter
Ugeskrift for Laeger
2023/2/27
Klaus Brusgaard
H-Index: 21
Early diagnosis of Kabuki syndrome in an infant with congenital hyperinsulinism
IMPE Abstracts
2023/2/14
Klaus Brusgaard
H-Index: 21
Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease
Calcified Tissue International
2022/12
Klaus Brusgaard
H-Index: 21
En otte måneder gammel dreng med svær hypoglykæmi
Ugeskrift for Laeger
2022/9/12
Klaus Brusgaard
H-Index: 21
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients
Annals of human genetics
2022/7
Ming Tan
H-Index: 36
Klaus Brusgaard
H-Index: 21
Tu1197: WHOLE GENOME SEQUENCING IDENTIFIES RARE GENETIC VARIANTS IN FAMILIAL PANCREATIC CANCER PATIENTS
Gastroenterology
2022/5/1
Ming Tan
H-Index: 36
Klaus Brusgaard
H-Index: 21
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia
European Journal of Endocrinology
2022/4/1
Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report
Journal of Medical Case Reports
2021/12
Klaus Brusgaard
H-Index: 21
Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients
Clinical Genetics
2021/11
Ming Tan
H-Index: 36
Klaus Brusgaard
H-Index: 21
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
American Journal of Medical Genetics Part A
2021/10
Klaus Brusgaard
H-Index: 21
Cohort profile and heritability assessment of familial pancreatic cancer: a nation-wide study
Scandinavian Journal of Gastroenterology
2021/8/3
Ming Tan
H-Index: 36
Klaus Brusgaard
H-Index: 21
CRISPR/Cas9 ADCY7 Knockout Stimulates the Insulin Secretion Pathway Leading to Excessive Insulin Secretion
Frontiers in Endocrinology
2021/6/11
Klaus Brusgaard
H-Index: 21
Heritability of Familial Pancreatic Cancer in a Danish national family cohort (Su293)
2021/5/23
Ming Tan
H-Index: 36
Klaus Brusgaard
H-Index: 21
Co-Authors
