The Next Fifty Years: Drug Discovery in the Age of the Computational Self
Kosi Gramatikoff, Ed Judge, Klaus Brusgaard
0 citationsThe EuroBiotech Journal
Klaus Brusgaard
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223Publications signalées
3450Citations signalées
4Affiliations récentes
Institutions déclarées
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Hyperglycemia and glycemic control in critically ill and hospitalized patientsPancreatic function and diabetesPancreatic and Hepatic Oncology ResearchVascular Anomalies and TreatmentsPancreatitis Pathology and Treatment
Publications récentes
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans
Claudia Bonardi, Rikke S. Møller, Nuria Ruiz-Reig, Guoliang Chai et autres
2 citationsNature Communications
Germline and somatic mutations in histologically atypical congenital hyperinsulinism
Annette Rønholt Larsen, Evgenia Globa, Ditte Caroline Andersen, Catarina Limbert et autres
3 citationsFrontiers in Endocrinology
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia
Pernille Darre Haahr, Qin Hao, Klaus Brusgaard, Martin J. Larsen et autres
2 citationsEuropean Journal of Human Genetics
Severe Osteoporosis in Larsen Syndrome—A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant
Trine Maxel Juul, Lisbeth Koch Thomsen, Christina Møller Andreasen, Charlotte Ejersted et autres
0 citationsCalcified Tissue International
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger
Jeff Granhøj, Mads Malik Aagaard, Katja Venborg Pedersen, Dorte L. Lildballe et autres
2 citationsKidney International Reports
Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape
Jeanne Mari V. Bang, Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund et autres
0 citationsmedRxiv
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
Michele Nicastro, Alexa M.C. Vermeer, Pieter G. Postema, Rafik Tadros et autres
3 citationsThe American Journal of Human Genetics
Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic Telangiectasia
Pernille Darre Haahr, Qin Hao, Klaus Brusgaard, Martin J. Larsen et autres
2 citationsResearch Square
Genotype-histotype-phenotype correlations in atypical congenital hyperinsulinism
Klaus Brusgaard, Annette K. Larsen, Ditte Madsen Andersen, Catarina Limbert et autres
0 citationsEndocrine Abstracts
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma
Stine Bjørn Gram, Klaus Brusgaard, Ulrikke Lei, Mette Sommerlund et autres
10 citationsJAMA Dermatology
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy
Michele Nicastro, Alexa M.C. Vermeer, Pieter G. Postema, Rafik Tadros et autres
0 citationsmedRxiv
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