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4. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Issue 2 (30th March 2017)

9. Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in KMT2A. Issue 10 (16th August 2017)

10. PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. (October 2019)