Masahisa Kobayashi

机构：Jikei University School of Medicine

发表论文 62 篇 · 总被引 801 次 · h-index 18

代表论文

• Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome (2020 · American Journal of Medical Genetics Part A · 被引 37)
• Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease (2019 · Journal of Human Genetics · 被引 23)
• Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome (2018 · Human Genome Variation · 被引 19)
• Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy (2020 · Molecular Genetics and Metabolism Reports · 被引 18)
• Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients (2019 · Journal of Cardiology · 被引 18)
• Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction (2018 · Human Genome Variation · 被引 13)