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Dive into the research topics where Makiko Tsutsumi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report
Yokoi, K., Nakajima, Y., Sudo, Y., Mariya, T., Kawamura, R., Tsutsumi, M., Inagaki, H., Yoshikawa, T., Ito, T. & Kurahashi, H., 11-2022, In: JIMD Reports. 63, 6, p. 575-580 6 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Citation (Scopus) -
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Bonora, E., Chakrabarty, S., Kellaris, G., Tsutsumi, M., Bianco, F., Bergamini, C., Ullah, F., Isidori, F., Liparulo, I., Diquigiovanni, C., Masin, L., Rizzardi, N., Cratere, M. G., Boschetti, E., Papa, V., Maresca, A., Cenacchi, G., Casadio, R., Martelli, P. & Matera, I. & 47 others, , 01-05-2021, In: Brain. 144, 5, p. 1451-1466 16 p.Research output: Contribution to journal › Article › peer-review
Open Access42 Link opens in a new tab Citations (Scopus) -
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.Research output: Contribution to journal › Article › peer-review
Open Access18 Link opens in a new tab Citations (Scopus) -
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma
Tsutsumi, M., Miura, H., Inagaki, H., Shinkai, Y., Kato, A., Kato, T., Hamada-Tsutsumi, S., Tanaka, M., Kudo, K., Yoshikawa, T. & Kurahashi, H., 12-2020, In: BMC Cancer. 20, 1, 1162.Research output: Contribution to journal › Article › peer-review
Open Access7 Link opens in a new tab Citations (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.Research output: Contribution to journal › Article › peer-review
4 Link opens in a new tab Citations (Scopus)