• 1677 Citations
  • 23 h-Index
19942019
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Fingerprint Dive into the research topics where Hidehito Inagaki is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Meiosis Medicine & Life Sciences
GTP Cyclohydrolase 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

1 Citation (Scopus)

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., 01-03-2019, In : Brain and Development. 41, 3, p. 285-291 7 p.

Research output: Contribution to journalArticle

Epilepsy
Mutation
Genes
Respiratory Insufficiency
Parents
Open Access
Supravalvular Aortic Stenosis
Elastin
Exons
Manuscripts
Emotions

Disruption of the responsible gene in a phosphoglucomutase 1 deficiency patient by homozygous chromosomal inversion

Yokoi, K., Nakajima, Y., Ohye, T., Inagaki, H., Wada, Y., Fukuda, T., Sugie, H., Yuasa, I., Ito, T. & Kurahashi, H., 01-01-2019, JIMD Reports. Springer, p. 85-90 6 p. (JIMD Reports; vol. 43).

Research output: Chapter in Book/Report/Conference proceedingChapter

Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease
1 Citation (Scopus)

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

Boda, H., Miyata, M., Inagaki, H., Shinkai, Y., Kato, T., Yoshikawa, T. & Kurahashi, H., 11-2019, In : European Journal of Medical Genetics. 62, 11, 103570.

Research output: Contribution to journalArticle

Pituitary Hormones
Missense Mutation
Intestinal Atresia
Imperforate Anus
Haploinsufficiency
1 Citation (Scopus)

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