Nobuhiko Okamoto

机构：Osaka Women's and Children's Hospital

发表论文 14 篇 · 总被引 432 次 · h-index 7

代表论文

• Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease (2012 · Neurology · 被引 305)
• Targeted next‐generation sequencing in the diagnosis of neurodevelopmental disorders (2014 · Clinical Genetics · 被引 38)
• Hereditary spherocytic anemia with deletion of the short arm of chromosome 8 (1995 · American Journal of Medical Genetics · 被引 22)
• A Unique Downregulation of h2-Calponin Gene Expression in Down Syndrome: a Possible Attenuation Mechanism for Fetal Survival by Methylation at the CpG Island in the Trisomic Chromosome 21 (1997 · Molecular and Cellular Biology · 被引 18)
• A novel NONO variant that causes developmental delay and cardiac phenotypes (2023 · Scientific Reports · 被引 11)
• A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities (2023 · Journal of Human Genetics · 被引 10)