Matsuo M | Department Of Pediatrics Graduate School Of Medicine Kobe University

スポンサーリンク

概要

関連著者

もっと見る

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
Clinical Types, Molecular Genetic Diagnosis & Genetic : clinical Correlation in Patients with Spinal Muscular Atrophy
Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
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
Prediction of systemic exposure to cyclosporine in Japanese pediatric patients
Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
Effects of Polymorphisms of MDR1, MRP1, and MRP2 Genes on Their mRNA Expression Levels in Duodenal Enterocytes of Healthy Japanese Subjects(Biopharmacy)
The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
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
Nobel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11
Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
インドネシア東ジャワ地方の前頭骨篩骨脳瘤患者にMTHFR遺伝子のC677T変異は認められなかった
ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population
Comparative study on deletions of the dystrophin gene in three Asian populations
Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method : A pilot study on Filipino male newborns
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Malays in Malaysia
PDGF-alpha Receptor Expression Following Hypoxic-Ischemic Injury in the Neonatal Rat Brain
Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
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

もっと見る

スポンサーリンク