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Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 13, 2002
A role for the melanocortin 4 receptor in sexual functionLex H T Van der Ploeg, William J Martin, Andrew D Howard, et al.
Thorax|November 18, 2016
Preparation for a first-in-man lentivirus trial in patients with cystic fibrosisEric W F W Alton, Jeffery M Beekman, A Christopher Boyd, et al.
Life (Basel, Switzerland)|November 11, 2022
Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Seker Yilmaz, Julien Baruteau, Nur Arslan, et al.
Annals of Neurology|November 18, 2017
Natural history of infantile-onset spinal muscular atrophyStephen J Kolb, Christopher S Coffey, Jon W Yankey, et al.
Annals of Clinical and Translational Neurology|February 23, 2016
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker studyStephen J Kolb, Christopher S Coffey, Jon W Yankey, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Nature Communications|October 3, 2019
Australian vegetated coastal ecosystems as global hotspots for climate change mitigationOscar Serrano, Catherine E Lovelock, Trisha B Atwood, et al.
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