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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2010
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe diseasePaola de Filippi, Sabrina Ravaglia, Bruno Bembi, et al.
Journal of Inherited Metabolic Disease|September 17, 2010
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength responseSabrina Ravaglia, Anna Pichiecchio, Michela Ponzio, et al.
Journal of Inherited Metabolic Disease|September 15, 2010
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type IIBruno Bembi, Federica Edith Pisa, Marco Confalonieri, et al.
Neurology|May 16, 2014
Novel CLN3 mutation causing autophagic vacuolar myopathyAndrea Cortese, Arianna Tucci, Giovanni Piccolo, et al.
Journal of Neuro-Oncology|December 10, 2014
VEGFA SNP rs2010963 is associated with vascular toxicity in recurrent glioblastomas and longer response to bevacizumabAnna Luisa Di Stefano, Marianne Labussiere, Giuseppe Lombardi, et al.
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