eBraille: a web-based translation program for Japanese text to braille

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概要

• 論文の詳細を見る
• Emeraldの論文

著者

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Miura Kenji

  Laboratory For Applied Genome Science And Bioinformatics Clinical Genome Informatics Center Kobe Uni

• TAKAOKA Yutaka

  Division of Applied Genome Science and Bioinformatics ; Kobe University Graduate School of Medicine

• SUGANO Aki

  Division of Applied Genome Science and Bioinformatics ; Kobe University Graduate School of Medicine

• Ohta Mika

  Division Of Applied Genome Science And Bioinformatics ; Kobe University Graduate School Of Medicine

関連論文

• 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
• Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular 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
• Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome
• 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
• Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
• Effect of the Intestinal Flora on Amyloid Deposition in a Transgenic Mouse Model of Familial Amyloidotic Polyneuropathy
• 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)
• 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
• 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
• 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
• A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
• 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
• 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
• 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
• Herbal Medicine Containing Licorice May Be Contraindicated for a Patient with an HSD11B2 Mutation
• Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
• eBraille: a web-based translation program for Japanese text to braille
• 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
• Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB : application of simulation analysis

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