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Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University | 論文
- Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
- Mutational Spectrum of MSUD in the Philippines
- Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
- A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy
- バルプロ酸誘発高アンモニア血症に対するCPS1 4217C>A遺伝子多型の影響
- Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients
- Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
- 先天性全身性脂肪萎縮症の2乳児例
- A surviving case of papillorenal syndrome with the phenotype of Potter sequence
- Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
- Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
- Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
- Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
- Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
- A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome
- Utility of Multiplex PCR in Detecting the Causative Pathogens for Pediatric Febrile Neutropenia
- Place of Death of Pediatric Cancer Patients in a Single Institute during 7 Years
- Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
- Challenges of supplementary treatment for neurodegenerative diseases
- High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis