Yoshio Makita

机构：Asahikawa Medical College Hospital, Asahikawa Medical University · ORCID：0000-0002-0341-5709

发表论文 135 篇 · 总被引 3964 次 · h-index 33

代表论文

• Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures (2022 · Journal of Human Genetics · 被引 47)
• Novel NARS2 variant causing leigh syndrome with normal lactate levels (2022 · Human Genome Variation · 被引 16)
• GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy (2023 · Human Genome Variation · 被引 9)
• MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM (2022 · Human Genome Variation · 被引 6)
• Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability (2024 · Human Genome Variation · 被引 3)
• Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review (2022 · Journal of Clinical Neuromuscular Disease · 被引 3)