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Neuropediatrics|April 1, 2021
Pitfalls in Genetic Diagnostics: Why Phenotyping is EssentialJanina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, et al.Pediatric Radiology|January 12, 2013
PET/MR in children. Initial clinical experience in paediatric oncology using an integrated PET/MR scannerFranz Wolfgang Hirsch, Bernhard Sattler, Ina Sorge, et al.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.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 5