• 660 Citations
  • 14 h-Index
20092019
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Fingerprint Dive into the research topics where Toshiki Takenouchi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Induced Hypothermia Medicine & Life Sciences
Exome Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Japan Medicine & Life Sciences

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Research Output 2009 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 journalArticle

Open Access
Cleft Lip
Cleft Palate
Exons
Mutation
Autistic Disorder
Pulmonary Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease
Hematopoietic Stem Cell Transplantation
Neuroblastoma
Drug Therapy

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 Dec 1, In : Human Genome Variation. 6, 1, 25.

Research output: Contribution to journalArticle

Open Access
Megalencephaly
Phosphoric Monoester Hydrolases
Multiple Hamartoma Syndrome
Mutation
Tumors
1 Citation (Scopus)

Body Temperature, Heart Rate, and Short-Term Outcome of Cooled Infants

Tsuda, K., Iwata, S., Mukai, T., Shibasaki, J., Takeuchi, A., Ioroi, T., Sano, H., Yutaka, N., Takahashi, A., Takenouchi, T., Osaga, S., Tokuhisa, T., Takashima, S., Sobajima, H., Tamura, M., Hosono, S., Nabetani, M. & Iwata, O., 2019 Mar 1, In : Therapeutic Hypothermia and Temperature Management. 9, 1, p. 76-85 10 p.

Research output: Contribution to journalArticle

Open Access
Body Temperature
Heart Rate
Induced Hypothermia
Apgar Score
Brain Diseases
1 Citation (Scopus)

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

Uehara, T., Takenouchi, T., Yamaguchi, Y., Daimon, Y., Suzuki, H., Sakaguchi, Y. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Phenotype
Carbon
Genes
Intellectual Disability
Micrognathism