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Clinical Genetics|October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndromeBernt Popp, Melanie Brugger, Sibylle Poschmann, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 10, 2011
[18F]Fluorodeoxyglucose positron emission tomography for detection of bone marrow involvement in children and adolescents with Hodgkin's lymphomaSandra Purz, Christine Mauz-Körholz, Dieter Körholz, et al.Investigative Radiology|October 28, 2009
Pharmacokinetics and safety of gadobutrol-enhanced magnetic resonance imaging in pediatric patientsGabriele Hahn, Ina Sorge, Bernd Gruhn, et al.Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|July 7, 2026
S1 guideline sweat gland carcinomaMirjana Ziemer, Michael Erdmann, Abbas Agaimy, et al.American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.Pageof 6