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Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University | 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
- Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome
- 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