Journal Of Human Genetics SCIE

文章名称引用次数

• Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency17
• In vivo genome editing via the HITI method as a tool for gene therapy16
• CRISPR/Cas9 library screening for drug target discovery14
• Gene regulation by antitumor miR-130b-5p in pancreatic ductal adenocarcinoma: the clinical significance of oncogenic EPS813
• Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility13
• Dual strands of the miR-145 duplex (miR-145-5p and miR-145-3p) regulate oncogenes in lung adenocarcinoma pathogenesis11
• Dual strands of the miR-223 duplex (miR-223-5p and miR-223-3p) inhibit cancer cell aggressiveness: targeted genes are involved in bladder cancer pathogenesis11
• Urea cycle disorders-update11
• Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan11
• A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing10