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Dive into the research topics where Center for Medical 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
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Profiles
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Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond
Miya, F., Nakato, D., Suzuki, H., Yamada, M., Watanabe, D., Takenouchi, T. & Kosaki, K., 2026 Jan, In: Journal of Human Genetics. 71, 1, p. 13-21 9 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Citations (Scopus) -
Clinical characteristics of pulmonary non-tuberculous mycobacterial disease with CFTR variants in the Japanese population
Nagao, G., Namkoong, H., Tanaka, H., Asakura, T., Hara, A., Fukunaga, N., Kaji, M., Azekawa, S., Nakagawara, K., Morita, A., Kamata, H., Nishimura, T., Miya, F., Kosaki, K., Fukunaga, K., Holland, S. M. & Hasegawa, N., 2026 Feb 4, In: BMJ Open Respiratory Research. 13, 1, e003683.Research output: Contribution to journal › Article › peer-review
Open Access -
Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing – A Case Report
Kajikawa, D., Miura-Fuchino, R., Hinata, A., Hoshino, Y., Yukitake, Y., Arai, J., Imagawa, K., Suzuki, H., Kosaki, K. & Takenouchi, T., 2026 Apr, In: Neonatology. 123, 2Research output: Contribution to journal › Article › peer-review