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
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Proteins Medicine & Life Sciences
Kidney Medicine & Life Sciences
Lung Medicine & Life Sciences
Cell Cycle Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 1982 2017

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency

Takagi, M., Dobashi, K., Nagahara, K., Kato, M., Nishimura, G., Fukuzawa, R., Narumi, S. & Hasegawa, T. 2017 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Megalencephaly
Germ-Line Mutation
Growth Hormone
Mutation
Muscle Hypotonia

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region

Ohtaka, K., Fujisawa, Y., Takada, F., Hasegawa, Y., Miyoshi, T., Hasegawa, T., Miyoshi, H., Kameda, H., Kurokawa-Seo, M., Fukami, M. & Ogata, T. 2017 In : Human Mutation.

Research output: Contribution to journalArticle

Receptor, Fibroblast Growth Factor, Type 1
Hypogonadism
Foot
Mutation
Exons

Randomized controlled trial of oral immunotherapy for egg allergy in Japanese patients

Akashi, M., Yasudo, H., Narita, M., Nomura, I., Akasawa, A., Ebisawa, M., Takahashi, T. & Ohya, Y. 2017 In : Pediatrics International.

Research output: Contribution to journalArticle

Egg Hypersensitivity
Immunotherapy
Ovum
Randomized Controlled Trials
Food