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Nature|March 19, 2013
A central role for TFIID in the pluripotent transcription circuitryW W M Pim Pijnappel, Daniel Esch, Marijke P A Baltissen, et al.
Circulation. Cardiovascular Genetics|January 21, 2016
Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe DiseaseStephan C A Wens, Gerben J Schaaf, Michelle Michels, et al.
Ebiomedicine|March 30, 2019
A genetic modifier of symptom onset in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Molecular Therapy. Methods & Clinical Development|February 20, 2020
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA DiagnosisStijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, et al.
Brain : a Journal of Neurology|November 18, 2024
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophyMarnix Franken, Erik van der Wal, Dongxu Zheng, et al.
European Journal of Human Genetics : EJHG|February 10, 2019
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arraysIneke Labrijn-Marks, Galhana M Somers-Bolman, Stijn L M In 't Groen, et al.
European Journal of Neurology|June 14, 2024
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, et al.
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