Nishio Hisahide | Department Of Environmental Medicine Kobe University

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著作論文

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
2D and 3D Visualization of Ductal Carcinoma in situ (DCIS) using X-Ray Refraction Contrast
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)
日本人のSMN1遺伝子上にC117T多型を見出した
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
Double fetus-in-fetu : A case report with three-dimensional computed tomography findings
3冬季にわたる、インフルエンザウイルス上気道感染症(FLU-URTI)流行時におけるRSV下気道感染症(RSV-LRTI)患者の臨床的重症度の検討
Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrobe c oxidase dificiency
Severe neonatal nemaline myopathy with delayed maturation of muscle
A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE AMONG THE JAPANESE POPULATION
21-Hydroxylase Deficiency Presenting as Massive Bilateral Adrenal Masses in the Seventh Decade of Life
Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
Docosahexaenoic Acid Ethyl Ester and its Ultraviolet Degradation Products Showed DNA-Breaking Activity in Vitro and Cytotoxic Effects on the HSC-4 Cell Line
The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men
Molecular genetic analysis and mutation screening of the vhl gene in a Japanese family with von hippel-lindau disease
Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder
Comparison of the Bronchodilative Effects of Salbutamol Delivered via Three Mesh Nebulizers in Children with Bronchial Asthma
Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy
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
Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

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