Temple Street Children's University Hospital / Children's Health Ireland (CHI)

Hodgkin lymphoma: hypodense lesions in mediastinal masses (2024) Damek A, Kurch L, Franke FC, Attarbaschi A, Beishuizen A, Cepelova M, Ceppi F, et al. Journal article Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study (2024) Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, et al. Journal article Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration (2024) Hammann N, Lenz D, Bianzano A, Husain RA, Forman E, Bernstein JA, Dattner T, et al. Journal article Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy (2022) Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, et al. Journal article Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals (2022) Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, et al. Journal article INFANTS AND NEWBORNS WITH ATYPICAL TERATOID/RHABDOID TUMORS (ATRT) AND EXTRACRANIAL MALIGNANT RHABDOID TUMORS: A UNIQUE AND CHALLENGING POPULATION (2022) Nemes K, Johann PD, Steinbuegl M, Gruhle M, Bens S, Kachanov D, Teleshova M, et al. Conference contribution Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population (2022) Nemes K, Johann PD, Steinbügl M, Gruhle M, Bens S, Kachanov D, Teleshova M, et al. Journal article