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Dive into the research topics where Rie Kawamura is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 23 Article
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Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion
Kawamura, R., Shichiri, Y., Suzuki, H., Murase, Y., Naru, Y., Hara, T., Tsuboi, A., Satano, H., Sugihara, E. & Kurahashi, H., 12-2026, In: Molecular Cytogenetics. 19, 1, 8.Research output: Contribution to journal › Article › peer-review
Open Access -
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier
Furukawa, G., Kawamura, R., Inagaki, H., Sakakibara, Y., Asada, Y., Hara, T., Iwasa, T., Kuwahara, A., Irahara, M. & Kurahashi, H., 05-2025, In: Journal of Human Genetics. 70, 5, p. 249-255 7 p., 11711.Research output: Contribution to journal › Article › peer-review
Open Access -
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications
Nishi, E., Miyake, N., Kawamura, R., Hosoki, K., Hasegawa, Y., Matsumoto, N. & Okamoto, N., 02-2024, In: American Journal of Medical Genetics, Part A. 194, 2, p. 268-278 11 p.Research output: Contribution to journal › Article › peer-review
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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Sugimoto, T., Inagaki, H., Mariya, T., Kawamura, R., Taniguchi-Ikeda, M., Mizuno, S., Muramatsu, Y., Tsuge, I., Ohashi, H., Saito, N., Hasegawa, Y., Ochi, N., Yamaguchi, M., Murotsuki, J. & Kurahashi, H., 10-2023, In: Human Genetics. 142, 10, p. 1451-1460 10 p.Research output: Contribution to journal › Article › peer-review
Open Access11 Link opens in a new tab Citations (Scopus) -
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease
Mariya, T., Shichiri, Y., Sugimoto, T., Kawamura, R., Miyai, S., Inagaki, H., Sugihara, E., Ikeda, K., Baba, T., Ishikawa, A., Ammae, M., Nakaoka, Y., Saito, T., Sakurai, A. & Kurahashi, H., 03-2023, In: Prenatal Diagnosis. 43, 3, p. 304-313 10 p.Research output: Contribution to journal › Article › peer-review
7 Link opens in a new tab Citations (Scopus)