Research Output per year
Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit
Mutation
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Genes
Medicine & Life Sciences
CHARGE Syndrome
Medicine & Life Sciences
Intellectual Disability
Medicine & Life Sciences
Missense Mutation
Medicine & Life Sciences
Exome
Medicine & Life Sciences
Newborn Infant
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Profiles
Research Output 1991 2019
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 journal › Article
Phenotype
Carbon
Genes
Intellectual Disability
Micrognathism
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 journal › Article
Open Access
Caenorhabditis elegans
Electron Microscopy
Blood Platelets
Intellectual Disability
Deafness
Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation
Yamagata, S., Hattori, A., Miya, F., Kubota, Y., Endo, T., Negishi, Y., Nakamura, Y., Tsunoda, T., Kosaki, K. & Saitoh, S., 2019 Jan 1, In : No To Hattatsu. 51, 1, p. 29-32 4 p.Research output: Contribution to journal › Article
Epilepsy
Mutation
Language Development Disorders
Electroencephalography
Accidental Falls