Concepedia

Yumiko Ohkubo

YO

8

Publications

240

Citations

8

H-Index

2004

Active since

Affiliations

Hamamatsu University School of Medicine(Current)

Shizuoka Saiseikai General Hospital

Nagoya City University

National Center For Child Health and Development

Hamamatsu University

Yumiko Ohkubo is an author at Hamamatsu University School of Medicine specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

2004–2021

8

Publications

8

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population

Tohru Maeda, Satoshi Sumi, Akihito Ueta et al. · Molecular Genetics and Metabolism · 2005 · 79 citations

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Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing

Takuya Hiraide, Kaori Yamoto, Yohei Masunaga et al. · Clinical Genetics · 2021 · 41 citations

Vitamin B6-Responsive Ornithine Aminotransferase Deficiency with a Novel Mutation G237D

Yumiko Ohkubo, Akihito Ueta, Tetsuya Ito et al. · The Tohoku Journal of Experimental Medicine · 2005 · 33 citations · Full text

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

Masayo Kagami, Kaori Hara‐Isono, Keiko Matsubara et al. · Clinical Epigenetics · 2021 · 30 citations · Full text

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa et al. · Scientific Reports · 2018 · 19 citations · Full text

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