• 1585 Citations
  • 23 h-Index
19942019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 6 Similar Profiles
Genes Medicine & Life Sciences
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Mutation Medicine & Life Sciences
Genetic Translocation Medicine & Life Sciences
Cruciform DNA Medicine & Life Sciences
Genomic Instability Medicine & Life Sciences
Alleles Medicine & Life Sciences

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Research Output 1994 2019

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

Hayano, S., Okuno, Y., Tsutsumi, M., Inagaki, H., Fukasawa, Y., Kurahashi, H., Kojima, S., Takahashi, Y. & Kato, T., 01-01-2019, In : International Journal of Cardiology. 274, p. 290-295 6 p.

Research output: Contribution to journalArticle

Supravalvular Aortic Stenosis
Elastin
Exome
Mutation
Williams Syndrome

Myogenin promoter-associated lncRNA Myoparr is essential for myogenic differentiation

Hitachi, K., Nakatani, M., Takasaki, A., Ouchi, Y., Uezumi, A., Ageta, H., Inagaki, H., Kurahashi, H. & Tsuchida, K., 01-01-2019, (Accepted/In press) In : EMBO Reports. e47468.

Research output: Contribution to journalArticle

Long Noncoding RNA
Myogenin
Muscle
Myoblasts
Skeletal Muscle

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

Ishihara, N., Inagaki, H., Miyake, M., Kawamura, Y., Yoshikawa, T. & Kurahashi, H., 01-01-2018, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Epilepsy
Mutation
Genes
Respiratory Insufficiency
Parents

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

Suzumori, N., Inagaki, H., Ohtani, A., Kumagai, K., Takeda, E., Yoshihara, H., Sawada, Y., Inuzuka, S., Iwagaki, S., Takahashi, Y., Kurahashi, H. & Sugiura-Ogasawara, M., 01-11-2018, In : European Journal of Obstetrics Gynecology and Reproductive Biology. 230, p. 200-202 3 p.

Research output: Contribution to journalLetter

Ornithine Carbamoyltransferase Deficiency Disease
Gene Duplication
Exons
Mutation
Genes