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
Pediatrics Medicine & Life Sciences
Lung Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 1982 2017

A case of CDKL5 disorder: Improved ADL by simple treatment strategy for intractable epileptic seizures

Shike, T., Takahashi, Y., Kimura, N., Imai, K., Yamamoto, T. & Takahashi, T. 2017 In : No To Hattatsu. 49, 1, p. 28-31 4 p.

Research output: Contribution to journalArticle

Seizures
Epilepsy
Quality of Life
Rett Syndrome
Valproic Acid

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

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency

Takagi, M., Kamasaki, H., Yagi, H., Fukuzawa, R., Narumi, S. & Hasegawa, T. 2017 In : Endocrine Journal. 64, 2, p. 229-234 6 p.

Research output: Contribution to journalComment/debate

Pituitary Hormones
Protein Isoforms
Mutation
Exons
RNA Splice Sites