Saito Kayoko | Tokyo Women's Medical University Institute for Integrated Medical Sciences
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- Shimojima Keikoの詳細を見る
- 同名の論文著者
- Tokyo Women's Medical University Institute for Integrated Medical Sciencesの論文著者
Tokyo Women's Medical University Institute for Integrated Medical Sciences | 論文
- Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
- Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication
- Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
- Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination
- Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia