Nishio Hisahide | Department Of Genetic Epidemiology 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
Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy
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
Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
タイ国のGilbert症候群患者姉妹のUGT1A1遺伝子に認められた新しいミスセンス異変
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
Double fetus-in-fetu : A case report with three-dimensional computed tomography findings
Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity
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
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
Cardiac Involvement in a Family with Becker Muscular Dystrophy.
Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
Herbal Medicine Containing Licorice May Be Contraindicated for a Patient with an HSD11B2 Mutation
SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy
A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert’s Syndrome
Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia
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
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells

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