Tomoko Uehara

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 · 77 citations · Full text

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 · 67 citations

Immunodeficiencies, Pathology, Cell Cycle +20

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

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

Epileptic Encephalopathy, Mendelian Disorder, Genetic Disorder +9

The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway

Tomoko Uehara, Eriko Kage‐Nakadai, Sawako Yoshina et al. · PLoS Genetics · 2015 · 41 citations · Full text

Genetics, Bcl7 Gene Family, Wnt Signaling Pathway +18