Matsuo M | Division Of Genetics International Center For Medical Research Kobe University School Of Medicine

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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
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism
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
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
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Vietnam
C TO T TRANSITION AT THE FIRST NUCLEOTIDE OF CODON 63 OF THE β-GLOBIN GENE CORRESPONDING TO HEMOGLOBIN M-SASKATOON IN AN INDONESIAN BOY
Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
85 Interactions of thyroid spcific transcription factor 2 (TTF2) with TTF1 and PAX8: TTF2 is able to stimulate the transcriptional activity of TTF1 and PAX8 on the promoter of the thyroglobulin gene.

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