Research Output per year
Research Output per year
Fingerprint
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.
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Profiles
Research Output
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A call for global action for rare diseases in Africa
Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., Chipeta, J. & 30 others, , 2020 Jan 1, In : Nature genetics. 52, 1, p. 21-26 6 p.Research output: Contribution to journal › Comment/debate
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A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles
Fukaishi, T., Minami, I., Masuda, S., Miyachi, Y., Tsujimoto, K., Izumiyama, H., Hashimoto, K., Yoshida, M., Takahashi, S., Kashimada, K., Morio, T., Kosaki, K., Maezawa, Y., Yokote, K., Yoshimoto, T. & Yamada, T., 2020, In : Endocrine journal. 67, 2, p. 211-218 8 p.Research output: Contribution to journal › Article
Open Access -
A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing
Yokoi, T., Enomoto, Y., Uehara, T., Kosaki, K. & Kurosawa, K., 2020 Dec 1, In : Human Genome Variation. 7, 1, 22.Research output: Contribution to journal › Article
Open Access