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Department of Pediatrics, Shimane University, Faculty of Medicine | 論文
- KCNQ1遺伝子変異を伴う日本人小児QT延長症候群患者の臨床的、電気生理学的
- Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
- Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)