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

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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 journalArticle

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 journalArticle

Microcephaly
Missense Mutation
Mutation
Ribosomal Protein S6
Exome
Arthropods
Prothrombin
Thrombin
Hemorrhage
Mutation