年別の研究成果
年別の研究成果
検索結果
-
2022
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex
Muto, Y., Sasaki, H., Sumitomo, M., Inagaki, H., Kato, M., Kato, T., Miyai, S., Kurahashi, H. & Shiroki, R., 12-2022, In: Human Genome Variation. 9, 1, 5.研究成果: Article › 査読
Open Access2 被引用数 (Scopus) -
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes
Mariya, T., Kato, T., Sugimoto, T., Miyai, S., Inagaki, H., Ohye, T., Sugihara, E., Muramatsu, Y., Mizuno, S. & Kurahashi, H., 06-2022, In: Journal of Human Genetics. 67, 6, p. 363-368 6 p.研究成果: Article › 査読
4 被引用数 (Scopus) -
2021
External validation of the Michigan PICC catheter-associated bloodstream infections score (MPC score) for predicting the risk of peripherally inserted central catheter-associated bloodstream infections: A single-center study in Japan
Sakai, H., Iwata, M. & Terasawa, T., 2021, (Accepted/In press) In: Infection Control and Hospital Epidemiology.研究成果: Article › 査読
-
Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
Shibata, K., Kunisada, M., Miyai, S., Kawamori, S., Kurahashi, H. & Nishigori, C., 12-2021, In: Journal of Dermatology. 48, 12, p. e577-e578研究成果: Letter › 査読
1 被引用数 (Scopus) -
2020
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
Kawamura, R., Kato, T., Miyai, S., Suzuki, F., Naru, Y., Kato, M., Tanaka, K., Nagasaka, M., Tsutsumi, M., Inagaki, H., Ioroi, T., Yoshida, M., Nao, T., Conlin, L. K., Iijima, K., Kurahashi, H. & Taniguchi-Ikeda, M., 01-08-2020, In: Journal of Human Genetics. 65, 8, p. 705-709 5 p.研究成果: Article › 査読
Open Access8 被引用数 (Scopus) -
Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases
Kato, T., Kawai, M., Miyai, S., Suzuki, F., Tsutsumi, M., Mizuno, S., Ikeda, T. & Kurahashi, H., 01-04-2020, In: Cytogenetic and Genome Research. 160, 3, p. 118-123 6 p.研究成果: Article › 査読
1 被引用数 (Scopus) -
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications
Kato, T., Inagaki, H., Miyai, S., Suzuki, F., Naru, Y., Shinkai, Y., Kato, A., Kanyama, K., Mizuno, S., Muramatsu, Y., Yamamoto, T., Shinya, M., Tazaki, Y., Hiwatashi, S., Ikeda, T., Ozaki, M. & Kurahashi, H., 01-11-2020, In: Human Genetics. 139, 11, p. 1417-1427 11 p.研究成果: Article › 査読
8 被引用数 (Scopus)