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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
- 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
- Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome
- 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
- Abdominal compartment syndrome occurring due to uterine perforation during a hysteroscopy procedure
- 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
- Biotic and Abiotic Stress-Related Expression of 1-Aminocyclopropane-1-carboxylate Oxidase Gene Family in Nicotiana glutinosa L.
- 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