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Congenital Anomalies|August 2, 2003
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathyTatsushi Toda, Kazuhiro Kobayashi, Satoshi Takeda, et al.Muscle & Nerve|March 22, 2021
Dispersion of mean consecutive differences in single-fiber electromyography increases diagnostic sensitivity for myasthenia gravisYuta Kojima, Kazumoto Shibuya, Akiyuki Uzawa, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 16, 2024
Diagnostic utility of Gold Coast criteria for amyotrophic lateral sclerosis in AsiaRyo Otani, Kazumoto Shibuya, Toshio Shimizu, et al.Skeletal Radiology|January 7, 2014
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnoseRalph S Lachman, Barbara K Burton, Lorne A Clarke, et al.Human Molecular Genetics|June 5, 2003
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye developmentSatoshi Takeda, Mari Kondo, Junko Sasaki, et al.Human Molecular Genetics|May 8, 2007
L1 retrotransposition can occur early in human embryonic developmentJosé A J M van den Hurk, Iwan C Meij, Maria del Carmen Seleme, et al.Microbiology Spectrum|May 9, 2023
Susceptibility of Ugandan Plasmodium falciparum Isolates to the Antimalarial Drug PipelineOriana Kreutzfeld, Patrick K Tumwebaze, Martin Okitwi, et al.EMBO Molecular Medicine|July 11, 2014
Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteinsBum-Ho Bin, Shintaro Hojyo, Toshiaki Hosaka, et al.Orphanet Journal of Rare Diseases|October 30, 2014
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexEiko Nagata, Hiroki Kano, Fumiko Kato, et al.Pageof 4