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 Access3 Citations (Scopus) -
α-Dystroglycanopathy: Molecular mechanism, clinical manifestations, and therapeutic approaches
Nagasaka, M. & Taniguchi-Ikeda, M., 21-06-2021, Comprehensive Glycoscience: Second Edition. Elsevier, p. 335-345 11 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
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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)