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Human Molecular Genetics|September 18, 2014
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channelsYukari Endo, Satoru Noguchi, Yuji Hara, et al.Journal of Medical Genetics|July 14, 2012
PAPSS2 mutations cause autosomal recessive brachyolmiaNoriko Miyake, Nursel H Elcioglu, Aritoshi Iida, et al.Neuromuscular Disorders : NMD|September 4, 2018
Characteristic findings of skeletal muscle MRI in caveolinopathiesKumiko Ishiguro, Takahiro Nakayama, Masaru Yoshioka, et al.Clinical Epigenetics|June 18, 2020
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patientsTakanobu Inoue, Akie Nakamura, Megumi Iwahashi-Odano, et al.Rheumatology (Oxford, England)|November 8, 2016
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodiesWen-Chen Liang, Akinori Uruha, Shigeaki Suzuki, et al.Pageof 7