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Neuromuscular Disorders : NMD|December 22, 2024
Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophyMaha Elseed, James N Sampson, Tuomo Polvikoski, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|January 10, 2015
Transcriptional corepressor MTG16 regulates small intestinal crypt proliferation and crypt regeneration after radiation-induced injuryShenika V Poindexter, Vishruth K Reddy, Mukul K Mittal, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Environmental Science & Technology|July 25, 2022
Understanding Sources and Drivers of Size-Resolved Aerosol in the High Arctic Islands of Svalbard Using a Receptor Model Coupled with Machine LearningCongbo Song, Silvia Becagli, David C S Beddows, et al.
Brain : a Journal of Neurology|October 24, 2025
EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signallingPauline Antonie Ulmke, M Sadman Sakib, Dang Ton Nguyen, et al.
Parasites & Vectors|July 26, 2014
Health education and the control of intestinal worm infections in China: a new visionDonald P McManus, Franziska A Bieri, Yue-Sheng Li, et al.
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