Miyamoto Masaki | Second Department Of Internal Medicine Kobe University School Of Medicine

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概要

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著作論文

Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14
ベトナム人脊髄性筋萎縮症患者におけるSMN2遺伝子量ならびにNAIP遺伝子量について
全国調査における典型的溶血性尿毒症症候群の重症化因子の検討
Association of Cumulative Cyclosporine Dose with Its Irreversible Nephrotoxicity in Japanese Patients with Pediatric-Onset Autoimmune Diseases(Biopharmacy)
HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 Achieve Proper Splicing Without an Upstream Polypyrimidine Tract
Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation
Mosaic Tetrasomy 9p Case with the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-Stimulated Testosterone Production
HILA-DQB1 locus and the development of atrophic gastritis with Helicobacter pylori infection
Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
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
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

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