MATSUO Masafumi | Department of Pediatrics, Graduate School of Medicine, Kobe University

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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)
志賀毒素を介さず発症した溶血性尿毒症症候群5症例の予後と腎組織像に関する検討
小児SLE患者に対する高用量ミゾリビン投与の試み
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness
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
日本人のSMN1遺伝子上にC117T多型を見出した
Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum
Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography-tandem mass spectrometry
Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
Maple Syrup Urine Disease : from the Clinics to the Lab and back to the Clinics
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

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