Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Klaus Brusgaard

Showing results (81-90 of 94) with videos related to

Pageof 10
Sort By:
Frontiers in Endocrinology|May 16, 2020
Variability in Medullary Thyroid Carcinoma in <i>RET</i> L790F Carriers: A Case Comparison Study of Index PatientsJes Sloth Mathiesen, Søren Grønlund Nielsen, Åse Krogh Rasmussen, et al.
Frontiers in Endocrinology|May 8, 2023
Insulinoma in childhood: a retrospective review of 22 patients from one referral centreMaria Melikyan, Diliara Gubaeva, Anna Shadrina, et al.
Clinical Endocrinology|June 14, 2020
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemiaHenrike Hoermann, Omar El-Rifai, Martin Schebek, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 17, 2015
Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, et al.
Epilepsy Research|January 12, 2013
The role of SLC2A1 in early onset and childhood absence epilepsiesHiltrud Muhle, Ingo Helbig, Tobias Guldberg Frøslev, et al.
European Journal of Medical Genetics|February 24, 2019
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinismHenrik Thybo Christesen, Lene Gaarsmand Christensen, Åsa Mattsson Löfgren, et al.
European Journal of Endocrinology|January 28, 2022
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemiaSinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, et al.
Calcified Tissue International|June 5, 2010
Phenotype presentation of hypophosphatemic rickets in adultsSigne S Beck-Nielsen, Klaus Brusgaard, Lars M Rasmussen, et al.
Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Nature Communications|January 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humansClaudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig, et al.
Pageof 10

Showing results (81-90 of 94) with videos related to

Sort By:
Pageof 10
Frontiers in Endocrinology|May 16, 2020
Variability in Medullary Thyroid Carcinoma in <i>RET</i> L790F Carriers: A Case Comparison Study of Index PatientsJes Sloth Mathiesen, Søren Grønlund Nielsen, Åse Krogh Rasmussen, et al.
Frontiers in Endocrinology|May 8, 2023
Insulinoma in childhood: a retrospective review of 22 patients from one referral centreMaria Melikyan, Diliara Gubaeva, Anna Shadrina, et al.
Clinical Endocrinology|June 14, 2020
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemiaHenrike Hoermann, Omar El-Rifai, Martin Schebek, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 17, 2015
Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, et al.
Epilepsy Research|January 12, 2013
The role of SLC2A1 in early onset and childhood absence epilepsiesHiltrud Muhle, Ingo Helbig, Tobias Guldberg Frøslev, et al.
European Journal of Medical Genetics|February 24, 2019
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinismHenrik Thybo Christesen, Lene Gaarsmand Christensen, Åsa Mattsson Löfgren, et al.
European Journal of Endocrinology|January 28, 2022
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemiaSinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, et al.
Calcified Tissue International|June 5, 2010
Phenotype presentation of hypophosphatemic rickets in adultsSigne S Beck-Nielsen, Klaus Brusgaard, Lars M Rasmussen, et al.
Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Nature Communications|January 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humansClaudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig, et al.
Pageof 10