The Role of the Large T Antigen in the Molecular Pathogenesis of Merkel Cell Carcinoma (2024) Myrda J, Bremm F, Schaft N, Dörrie J Journal article, Review article Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35) (2023) German A, Jukic J, Laner A, Arnold P, Socher E, Mennecke A, Schmidt M, et al. Journal article Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia (2023) Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, et al. Journal article Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update (2022) Peschel N, Wright JT, Koster MI, Clarke AJ, Tadini G, Fete M, Hadj-Rabia S, et al. Journal article Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias (2022) Maier-Wohlfart S, Aicher C, Willershausen I, Peschel N, Meißner U, Gölz L, Schneider H Journal article Distinct morphological and behavioural alterations in enu-induced heterozygous trpc7k810stop mutant mice (2021) Rathkolb B, Howaldt M, Krebs S, Prückl P, Sauer S, de Angelis MH, Aigner B Journal article Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO) (2021) Schierbaum LM, Schneider S, Herms S, Sivalingam S, Fabian J, Reutter HM, Weber S, et al. Journal article The role of de novo variants in patients with congenital diaphragmatic hernia (2021) Bendixen C, Reutter HM Journal article, Review article The role of de novo variants in formation of human anorectal malformations (2021) Dworschak GC, van Rooij IA, Reutter HM Journal article, Review article The genomic architecture of bladder exstrophy epispadias complex (2021) Beaman GM, Cervellione RM, Keene D, Reutter HM, Newman WG Journal article, Review article