Genes
ISSN: 2073-4425
Publisher: Molecular Diversity Preservation International (MDPI)
Publications (15)
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
Kinase Inhibitors of DNA-PK, ATM and ATR in Combination with Ionizing Radiation Can Increase Tumor Cell Death in HNSCC Cells While Sparing Normal Tissue Cells (2021)
Faulhaber EM, Jost T, Symank JA, Scheper J, Burkel F, Fietkau R, Hecht M, Distel L
Journal article