Takeshi Mizuguchi

机构：Yokohama City University · ORCID：0000-0003-4998-1244

发表论文 228 篇 · 总被引 8499 次 · h-index 48

代表论文

• Complete nanopore repeat sequencing of SCA27B (GAA- FGF14 ataxia) in Japanese (2024 · Journal of Neurology Neurosurgery & Psychiatry · 被引 16)
• Hemizygous SMARCA1 variants cause X-linked intellectual disability (2025 · Journal of Human Genetics · 被引 2)
• Clinical and genetic spectrum of patients with IRF2BPL syndrome (2025 · Journal of Human Genetics · 被引 2)
• Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea (2025 · Journal of Clinical Neurology · 被引 2)
• Biallelic missense CEP55 variants cause prenatal MARCH syndrome (2024 · Journal of Human Genetics · 被引 2)
• Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders (2025 · Journal of Human Genetics · 被引 1)