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American Journal of Medical Genetics. Part A|February 18, 2020
Nine newly identified individuals refine the phenotype associated with MYT1L mutationsIsabelle C Windheuser, Jessica Becker, Kirsten Cremer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.Brain : a Journal of Neurology|March 11, 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disordersYousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, et al.JHEP Reports : Innovation in Hepatology|April 26, 2026
Robust HLA-B-restricted CD8+ T cell responses in chronic HBV infectionJulia Lang-Meli, Anna-Lena Denecke, Johannes Ptok, et al.Nature Genetics|June 30, 2009
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type IIKlaus Schwarz, Achille Iolascon, Fatima Verissimo, et al.American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.Transplantation and Cellular Therapy|July 18, 2025
Prognostic Implications of Splenomegaly in BCMA-Directed CAR T-Cell Therapy for Relapsed MyelomaThomas C Wiemers, Maximilian Ferle, Jonas Ader, et al.Nature Communications|October 21, 2023
Microphysiological model reveals the promise of memory-like natural killer cell immunotherapy for HIV<sup>±</sup> cancerJose M Ayuso, Mehtab Farooqui, María Virumbrales-Muñoz, et al.Frontiers in Surgery|March 2, 2023
SEVTAR-A multicenter randomized controlled trial to investigate the impact of prophylactic endoluminal placed vacuum sponge for prevention of anastomotic leakage after low rectal resectionsLeif Schiffmann, Matthias Becker, Leendert Develing, et al.European Journal of Heart Failure|June 27, 2023
Cardiovascular health-related quality of life in cancer: a prospective study comparing the ESC HeartQoL and EORTC QLQ-C30 questionnaireMarkus S Anker, Sophia K Potthoff, Alessia Lena, et al.Pageof 108