Center for Medical Genetics

Fingerprint Dive into the research topics where Center for Medical Genetics is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

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
Exons Medicine & Life Sciences

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Profiles

No photo of Kenjiro Kosaki

Kenjiro Kosaki

Person: Academic

19912019
No photo of Tomoko Uehara

Tomoko Uehara

Person: Academic

20112019
No photo of Mamiko Yamada

Mamiko Yamada

Person: Academic

19902019

Research Output 1990 2019

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K. & Takada, H., 2019 Jan 1, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journal › Article

Open Access
Cleft Lip
Cleft Palate
Exons
Mutation
Autistic Disorder

A case of familial episodic pain syndrome with SCN11A mutation treated prophylactically with sodium channel blockers

Tanaka, F., Goto, T., Ogawa, E., Moriyama, S., Ito, A., Kurosawa, K. & Kosaki, K., 2019 Jan 1, In : No To Hattatsu. 51, 4, p. 266-270 5 p.

Research output: Contribution to journal › Article

Sodium Channel Blockers
Pain
Mutation
Somatoform Disorders
Fathers

Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019 Jan 1, In : Endocrine journal. 66, 10, p. 853-857 5 p.

Research output: Contribution to journal › Article

Open Access
Growth Hormone-Secreting Pituitary Adenoma
Neurofibromatosis 1
Acromegaly
Neurofibromatosis 1 Genes
Follicular Adenocarcinoma