Hospital Sant Joan de Déu Barcelona

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 Leigh syndrome is the main clinical characteristic of PTCD3 deficiency (2022) Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, et al. Journal article Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (2021) Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, et al. Journal article SOMATIC GENETIC RESCUE IN SAMD9/SAMD9L MDS PREDISPOSITION SYNDROMES (2021) Sahoo S, Pastor V, Goodings C, Noellke P, Dworzak M, Stary J, Locatelli F, et al. Conference contribution Safety and effectiveness of pediatric growth hormone therapy: Results from the full cohort in KIGS (2021) Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Dörr HG, Wikland KA, Ibanez L, et al. Conference contribution CONTRIBUTION OF DEFECTIVE NON-APOPTOTIC FAS SIGNALING TO IMMUNE DYSREGULATION IN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS) (2020) Staniek J, Kalina T, Andrieux G, Boerries M, Janowska I, Fuentes M, Bakardjieva M, et al. Conference contribution Multicenter, International Assessment of the Eighth Edition of the American Joint Committee on Cancer Cancer Staging Manual for Conjunctival Melanoma (2019) Jain P, Finger PT, Damato B, Coupland SE, Heimann H, Kenawy N, Brouwer NJ, et al. Journal article The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 (2018) Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel C, Sticht H, Berghoff M, et al. Journal article DNA methylation-based reclassification of olfactory neuroblastoma (2018) Capper D, Engel NW, Stichel D, Lechner M, Gloess S, Schmid S, Koelsche C, et al. Journal article The second European interdisciplinary Ewing sarcoma research summit--A joint effort to deconstructing the multiple layers of a complex disease (2016) Kovar H, Amatruda J, Brunet E, Burdach S, Cidre-Aranaz F, De Alava E, Dirksen U, et al. Journal article