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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.
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.
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