年別の研究成果
年別の研究成果
検索結果
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2021
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: ジャーナルへの寄稿 › Letter › 査読
1 被引用数 (Scopus) -
2019
A constitutional jumping translocation involving the y and acrocentric chromosomes
Tsutsumi, M., Fujita, N., Suzuki, F., Mishima, T., Fujieda, S., Watari, M., Takahashi, N., Tonoki, H., Moriwaka, O., Endo, T. & Kurahashi, H., 01-01-2019, In: Asian Journal of Andrology. 21, 1, p. 101-103 3 p.研究成果: ジャーナルへの寄稿 › Letter › 査読
Open Access1 被引用数 (Scopus) -
2018
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., 11-2018, In: European Journal of Obstetrics and Gynecology and Reproductive Biology. 230, p. 200-202 3 p.研究成果: ジャーナルへの寄稿 › Letter › 査読
2 被引用数 (Scopus) -
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia
Taniguchi-Ikeda, M., Morisada, N., Inagaki, H., Ouchi, Y., Takami, Y., Tachikawa, M., Satake, W., Kobayashi, K., Tsuneishi, S., Takada, S., Yamaguchi, H., Nagase, H., Nozu, K., Okamoto, N., Nishio, H., Toda, T., Morioka, I., Wada, H., Kurahashi, H. & Iijima, K., 04-2018, In: Clinical Genetics. 93, 4, p. 931-933 3 p.研究成果: ジャーナルへの寄稿 › Letter › 査読
7 被引用数 (Scopus) -
2016
Authors' response to the letter of Nagirnaja et al., “Response to annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?”
Markoff, A., Kurahashi, H., Grandone, E. & Bogdanova, N., 01-07-2016, In: Reproductive BioMedicine Online. 33, 1, p. 116-117 2 p.研究成果: ジャーナルへの寄稿 › Letter › 査読
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Transcriptional activation of platelet-derived growth factor receptor α and GS homeobox 2 resulting from E26 transformation-specific variant 6 translocation in a case of acute myeloid leukemia with t(4;12)(q12;p13)
Abe, A., Mizuta, S., Okamoto, A., Yamamoto, Y., Kameyama, T., Mayeda, A. & Emi, N., 01-04-2016, In: International Journal of Laboratory Hematology. 38, 2, p. e15-e18研究成果: ジャーナルへの寄稿 › Letter › 査読
2 被引用数 (Scopus) -
2015
Nine-year follow-up in a child with chromosomal integration of human herpesvirus 6 transmitted from an unrelated donor through the Japan Marrow Donor Program
Yagasaki, H., Shichino, H., Shimizu, N., Ohye, T., Kurahashi, H., Yoshikawa, T. & Takahashi, S., 01-02-2015, In: Transplant Infectious Disease. 17, 1, p. 160-161 2 p.研究成果: ジャーナルへの寄稿 › Letter › 査読
4 被引用数 (Scopus) -
Reply to Warren et al. and Shay et al. Commonalities across species do exist and are potentially important
Takao, K., Hagihara, H. & Miyakawa, T., 27-01-2015, In: Proceedings of the National Academy of Sciences of the United States of America. 112, 4, p. e347-e348研究成果: ジャーナルへの寄稿 › Letter › 査読
Open Access14 被引用数 (Scopus) -
2010
Genetic Variation in the Indoleamine 2,3-Dioxygenase Gene in Pre-eclampsia (Reply)
Nishizawa, H. & Kurahashi, H., 01-11-2010, In: American Journal of Reproductive Immunology. 64, 5, p. 317 1 p.研究成果: ジャーナルへの寄稿 › Letter › 査読