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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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 Access16 Citations (Scopus) -
Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy
Taniguchi-Ikeda, M., Koyanagi-Aoi, M., Maruyama, T., Takaori, T., Hosoya, A., Tezuka, H., Nagase, S., Ishihara, T., Kadoshima, T., Muguruma, K., Ishigaki, K., Sakurai, H., Mizoguchi, A., Novitch, B. G., Toda, T., Watanabe, M. & Aoi, T., 22-10-2021, In: iScience. 24, 10, 103140.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (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 Access8 Citations (Scopus)