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Molecular Neurobiology|April 13, 2017
Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression LevelThomas Labisch, Stephan Buchkremer, Vietxuan Phan, et al.
Journal of Clinical Medicine|December 30, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case ReportOzge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel, et al.
Biomedicines|October 27, 2022
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human <i>VCP</i>-PathologyAnne-Katrin Guettsches, Nancy Meyer, René P Zahedi, et al.
Scientific Reports|December 21, 2023
Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe diseaseMarlena Rohm, Gabriele Russo, Xavier Helluy, et al.
European Journal of Human Genetics : EJHG|September 28, 2019
Severe neurodevelopmental disease caused by a homozygous TLK2 variantAna Töpf, Yavuz Oktay, Sunitha Balaraju, et al.
Orphanet Journal of Rare Diseases|September 10, 2020
Further evidence for POMK as candidate gene for WWS with meningoencephaloceleLuisa Paul, Katrin Rupprich, Adela Della Marina, et al.
JCI Insight|May 25, 2023
Eculizumab treatment alters the proteometabolome beyond the inhibition of complementChristopher Nelke, Christina B Schroeter, Frauke Stascheit, et al.
Cells|October 27, 2022
High-Dimensional Cytometry Dissects Immunological Fingerprints of Idiopathic Inflammatory MyopathiesChristopher Nelke, Marc Pawlitzki, Christina B Schroeter, et al.
European Heart Journal|June 10, 2020
Performance of the GRACE 2.0 score in patients with type 1 and type 2 myocardial infarctionJohn Hung, Andreas Roos, Erik Kadesjö, et al.
Clinical Genetics|January 7, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and HyperphagiaOzge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, et al.
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