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Klaus Brusgaard

Showing results (71-80 of 94) with videos related to

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Frontiers in Endocrinology|July 26, 2017
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort StudyAnnett Helleskov, Maria Melikyan, Evgenia Globa, et al.
Kidney International Reports|November 24, 2025
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or YoungerJeff Granhøj, Mads M Aagaard, Katja V Pedersen, et al.
Cancer Genetics|November 19, 2019
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposisAmeni Kdissa, Klaus Brusgaard, Mahdi Ksiaa, et al.
European Journal of Nuclear Medicine and Molecular Imaging|November 9, 2017
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluationCharlotte Dahl Christiansen, Henrik Petersen, Anne Lerberg Nielsen, et al.
Annals of Pediatric Endocrinology & Metabolism|September 3, 2020
Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, et al.
JAMA Dermatology|December 4, 2024
Clinical and Genetic Findings in Patients With Palmoplantar KeratodermaStine Bjørn Gram, Klaus Brusgaard, Ulrikke Lei, et al.
European Journal of Human Genetics : EJHG|October 30, 2025
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasiaPernille Darre Haahr, Qin Hao, Klaus Brusgaard, et al.
Frontiers in Endocrinology|January 21, 2026
Germline and somatic mutations in histologically atypical congenital hyperinsulinismAnnette Rønholt Larsen, Evgenia Globa, Ditte Caroline Andersen, et al.
European Journal of Endocrinology|May 3, 2008
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutationHenrik B T Christesen, Nicholas D Tribble, Anders Molven, et al.
Diabetes|March 28, 2002
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapyHenrik B T Christesen, Bendt B Jacobsen, Stella Odili, et al.
Pageof 10

Showing results (71-80 of 94) with videos related to

Sort By:
Pageof 10
Frontiers in Endocrinology|July 26, 2017
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort StudyAnnett Helleskov, Maria Melikyan, Evgenia Globa, et al.
Kidney International Reports|November 24, 2025
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or YoungerJeff Granhøj, Mads M Aagaard, Katja V Pedersen, et al.
Cancer Genetics|November 19, 2019
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposisAmeni Kdissa, Klaus Brusgaard, Mahdi Ksiaa, et al.
European Journal of Nuclear Medicine and Molecular Imaging|November 9, 2017
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluationCharlotte Dahl Christiansen, Henrik Petersen, Anne Lerberg Nielsen, et al.
Annals of Pediatric Endocrinology & Metabolism|September 3, 2020
Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, et al.
JAMA Dermatology|December 4, 2024
Clinical and Genetic Findings in Patients With Palmoplantar KeratodermaStine Bjørn Gram, Klaus Brusgaard, Ulrikke Lei, et al.
European Journal of Human Genetics : EJHG|October 30, 2025
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasiaPernille Darre Haahr, Qin Hao, Klaus Brusgaard, et al.
Frontiers in Endocrinology|January 21, 2026
Germline and somatic mutations in histologically atypical congenital hyperinsulinismAnnette Rønholt Larsen, Evgenia Globa, Ditte Caroline Andersen, et al.
European Journal of Endocrinology|May 3, 2008
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutationHenrik B T Christesen, Nicholas D Tribble, Anders Molven, et al.
Diabetes|March 28, 2002
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapyHenrik B T Christesen, Bendt B Jacobsen, Stella Odili, et al.
Pageof 10