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Fingerprint Dive into the research topics where Tomoko Uehara is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Caenorhabditis elegans Medicine & Life Sciences
Hirschsprung Disease Medicine & Life Sciences
Retroelements Medicine & Life Sciences

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Research Output 2011 2019

  • 79 Citations
  • 5 h-Index
  • 32 Article
  • 2 Review article

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 Dec 1, In : Human Genome Variation. 6, 1, 25.

Research output: Contribution to journalArticle

Open Access
Phosphoric Monoester Hydrolases
Multiple Hamartoma Syndrome

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

Uehara, T., Takenouchi, T., Yamaguchi, Y., Daimon, Y., Suzuki, H., Sakaguchi, Y. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Intellectual Disability
1 Citation (Scopus)

Medical genetics and genomic medicine in Japan

Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 Jun 1, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 2, p. 166-169 4 p.

Research output: Contribution to journalReview article

Medical Genetics
Rare Diseases
Federal Government
Mitochondrial Diseases
Transfer RNA
Myoclonic Epilepsy

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

Uehara, T., Suzuki, H., Okamoto, N., Kondoh, T., Ahmad, A., O’Connor, B. C., Yoshina, S., Mitani, S., Kosaki, K. & Takenouchi, T., 2019 Dec 1, In : Scientific reports. 9, 1, 4418.

Research output: Contribution to journalArticle

Open Access
Caenorhabditis elegans
Electron Microscopy
Blood Platelets
Intellectual Disability