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American Journal of Medical Genetics. Part A|December 22, 2023
Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complexChristoph Hofmann, Steffen Syrbe, Joachim Hebe, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2024
Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysisSvenja Scharre, Katharina Mengler, Elena Schnabel, et al.Journal of Pediatric Gastroenterology and Nutrition|August 18, 2020
Optimized Trientine-dihydrochloride Therapy in Pediatric Patients With Wilson Disease: Is Weight-based Dosing Justified?Toni Mayr, Peter Ferenci, Markus Weiler, et al.Scientific Reports|September 25, 2025
Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduriaFelix Köpfer, Maria Bartosova Medvid, Thomas Fleming, et al.Medical Teacher|September 6, 2013
Learner preferences regarding integrating, sequencing and aligning virtual patients with other activities in the undergraduate medical curriculum: A focus group studySören Huwendiek, Cecilia Duncker, Friedrich Reichert, et al.Molecular Genetics and Metabolism|July 15, 2022
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literatureNastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, et al.Molecular and Cellular Endocrinology|November 9, 2011
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?Carolin S Hoefig, Kostja Renko, Susanne Piehl, et al.Molecular Genetics and Metabolism|December 11, 2012
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypothesesGwendolyn Gramer, Birgit Förl, Christina Springer, et al.Medical Teacher|October 15, 2014
Exploring the validity and reliability of a questionnaire for evaluating virtual patient design with a special emphasis on fostering clinical reasoningSören Huwendiek, Bas A De Leng, Andrzej A Kononowicz, et al.Journal of Medical Virology|February 16, 2023
Live-virus neutralization of the omicron variant in children and adults 14 months after SARS-CoV-2 wild-type infectionMaximilian Stich, Louise Benning, Claudius Speer, et al.Pageof 16