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 2018
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution
Takenouchi, T., Sakamoto, Y., Sato, H., Suzuki, H., Uehara, T., Ohsone, Y. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome
Hori, I., Miya, F., Negishi, Y., Hattori, A., Ando, N., Boroevich, K. A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2018 Jun 15, (Accepted/In press) In : Journal of Human Genetics. p. 1-7 7 p.Research output: Contribution to journal › Article
Microcephaly
Missense Mutation
Mutation
Ribosomal Protein S6
Exome
A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin
Takenouchi, T., Shimada, H., Uehara, T., Kanai, Y., Takahashi, T. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.Research output: Contribution to journal › Article
Arthropods
Prothrombin
Thrombin
Hemorrhage
Mutation