Concepedia

Chikahiko Numakura

CN

Statistics

Publications

43

Citations

2K

H-Index

25

Active since

1999

Affiliations

Yamagata University(Current)

Niigata University

Keio University

National Center For Child Health and Development

Kanagawa Children's Medical Center

Chikahiko Numakura is an author at Yamagata University specializing in genetics, genetic disorders, and human genetics.

Publications per year

1999–2023

43

Publications

43

Mitochondrial GTPase mitofusin 2 mutation in Charcot?Marie?Tooth neuropathy type 2A

Kazuki Kijima, Chikahiko Numakura, Hiroko Izumino et al. · Human Genetics · 2004 · 254 citations

, , +14

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Masayo Kagami, Keisuke Nagasaki, Rika Kosaki et al. · Genetics in Medicine · 2017 · 144 citations · Full text

, , +16

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Maki Fukami, Gen Nishimura, Keiko Homma et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 114 citations

, , +17

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Eri Imagawa, Ken Higashimoto, Yasunari Sakai et al. · Human Mutation · 2017 · 101 citations

, , +17

Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

Akiko Abe, Chikahiko Numakura, Kayoko Saito et al. · Journal of Human Genetics · 2009 · 98 citations

, , +13

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