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Neurology|October 23, 2002
Phenotypic features of myoclonus-dystonia in three kindredsD O Doheny, M F Brin, C E Morrison, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutationsKatheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
Annals of Neurology|March 15, 2000
Evaluation of the role of the D2 dopamine receptor in myoclonus dystoniaC Klein, N Gurvich, M Sena-Esteves, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"Kai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Hormone Research in Paediatrics|November 26, 2025
EndoCompass Project: Research Roadmap for Diabetes, Obesity, and MetabolismChantal Mathieu, Manuela Meireles, Uberto Pagotto, et al.
European Journal of Endocrinology|October 17, 2025
EndoCompass project: research roadmap for diabetes, obesity, and metabolismChantal Mathieu, Manuela Meireles, Uberto Pagotto, et al.
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