Research output per year
Research output per year
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Dive into the research topics where Clinical Genetics is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.
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Profiles
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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 Access4 Citations (Scopus) -
Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy
Yamaguchi, H., Taniguchi-Ikeda, M., Nagase, H., Ito, Y., Tokumoto, S., Toyoshima, D., Enkhjargal, S., Nishiyama, M., Awano, H., Kurosawa, H., Kasai, M., Maruyama, A. & Iijima, K., 05-2020, In: Journal of Infection and Chemotherapy. 26, 5, p. 516-519 4 p.Research output: Contribution to journal › Article › peer-review
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Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy
Morioka, S., Sakaguchi, H., Mohri, H., Taniguchi-Ikeda, M., Kanagawa, M., Suzuki, T., Miyagoe-Suzuki, Y., Toda, T., Saito, N. & Ueyama, T., 05-2020, In: PLoS Genetics. 16, 5, e1008826.Research output: Contribution to journal › Article › peer-review
Open Access3 Citations (Scopus)