Research output per year
Research output per year
Organisation profile
Organisation profile
大学病院
UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. Our work contributes towards the following SDG(s):
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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.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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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 Access3 Citations (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 Access31 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 Access6 Citations (Scopus)