Concepedia

Tomoko Uehara

TU

Statistics

Publications

52

Citations

1.1K

H-Index

21

Active since

1978

Affiliations

Keio University(Current)

Tokyo Metropolitan Children's Medical Center

Osaka Women's and Children's Hospital

National Center For Child Health and Development

Aichi Developmental Disability Center

Tomoko Uehara is an author at Keio University specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1978–2023

52

Publications

52

Establishing <i>SON</i> in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock–Carey syndrome phenotype

Toshiki Takenouchi, Kiyokuni Miura, Tomoko Uehara et al. · American Journal of Medical Genetics Part A · 2016 · 79 citations · Full text

, , +17

Further evidence of a mutation in <i>CDC42</i> as a cause of a recognizable syndromic form of thrombocytopenia

Toshiki Takenouchi, Nobuhiko Okamoto, Shinobu Ida et al. · American Journal of Medical Genetics Part A · 2015 · 69 citations

, , +16

Histometrical investigation of the pulmonary artery in severe hepatic disease

Osamu Matsubara, Takashi Nakamura, Tomoko Uehara et al. · The Journal of Pathology · 1984 · 55 citations

, , +14

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou et al. · The American Journal of Human Genetics · 2021 · 44 citations · Full text

, , +15

The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway

Tomoko Uehara, Eriko Kage‐Nakadai, Sawako Yoshina et al. · PLoS Genetics · 2015 · 43 citations · Full text

, , +16

1–5 of 52