Klaus Brusgaard

Vejle, Denmark

Last Updated: 09/26/2026

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Found 76 publications

Germline and somatic mutations in histologically atypical congenital hyperinsulinism.

Germline and somatic mutations in histologically atypical congenital hyperinsulinism.

Journal: Frontiers in endocrinology

Published: August 25, 2025

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant.

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant.

Journal: Calcified tissue international

Published: May 02, 2025

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.

Journal: European journal of human genetics : EJHG

Published: April 13, 2025

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

Journal: Kidney international reports

Published: January 14, 2025

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Journal: JAMA dermatology

Published: December 04, 2024

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Journal: American journal of human genetics

Published: August 18, 2024

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.

Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.

Journal: Histology and histopathology

Published: February 02, 2024

Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk.

Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk.

Journal: The Journal of dermatology

Published: January 05, 2024

Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.

Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.

Journal: Frontiers in endocrinology

Published: December 06, 2023

Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.

Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.

Journal: Clinical genetics

Published: November 09, 2023

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Journal: Nature communications

Published: October 25, 2023

Showing 1-12 of 76

Last Updated: 09/26/2026