European Journal of Pediatrics · 2008 · 35 citations · 27 references
MedicineGeneticsMolecular GeneticsEndocrine GeneticsHuman GeneticsMedical GeneticsGenetic DisordersGermline Variant AnalysisGermline Variant InterpretationHormone Receptor GeneticsGermline Mutation AnalysisGermline MutationsInherited Endocrine Receptor DisordersPathogenic Germline VariantsThyroid-stimulating Hormone Receptor Signaling
27
Congenital Hyperthyroidism Caused by a Mutation in the Thyrotropin-Receptor Gene
Peter Kopp, Jacqueline Van Sande, Jasmine Parma et al. · New England Journal of Medicine · 1995 · 314 citations · Full text
Medicine, Endocrinology, Genetics +17
Jasmine Parma, J. Van Sande, S. Swillens et al. · Molecular Endocrinology · 1995 · 235 citations · Full text
Medicine, Endocrinology, Genetics +17