Nakamura Hajime | Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine

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著作論文

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
チャイルドシート着用が新生児の呼吸循環機能に与える影響 : ベット状シートと椅子状シートの比較
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
新生児慢性肺疾患に対するデキサメサゾン療法が呼吸機能に及ぼす効果 : 病型別検討
Eyelid myoclonia with absences in monozygotic twins
Clinical features of infants with subependymal germinolysis and choroid plexus cysts
Evaluation of change of cerebral circulation by SpO_2 in preterm infants with apneic episodes using near infrared spectroscopy
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
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
Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene
End-tidal carbon monoxide is predictive for neonatal non-hemolytic hyperbilirubinemia
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrobe c oxidase dificiency
Severe neonatal nemaline myopathy with delayed maturation of muscle
Classification of Congenital Hypothyroidism Based on Scintigraphy, Ultrasonography and the Serum Thyroglobulin Level

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