Center for Medical Genetics

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.

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    Profiles

    No photo of Kenjiro Kosaki

    Kenjiro Kosaki

    Person: Academic

    19912020
    No photo of Tomoko Uehara

    Tomoko Uehara

    Person: Academic

    20112020
    No photo of Mamiko Yamada

    Mamiko Yamada

    Person: Academic

    19902020

    Research Output

    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, Gavhed, D., Larsson, A., Stojiljkovic, M., Nordgren, A., Roldan, E. J. A., Taruscio, D., Wong-Rieger, D., Nowak, K., Bilkey, G. A., Easteal, S., Bowdin, S., Reichardt, J. K. V., Beltran, S., Kosaki, K., van Karnebeek, C. D. M., Gong, M., Shuyang, Z., Mehrian-Shai, R., Adams, D. R., Puri, R. D., Zhang, F., Pachter, N., Muenke, M., Nellaker, C., Gahl, W. A., Cederroth, H., Broley, S., Schoonen, M., Boycott, K. M. & Posada, M., 2020 Jan 1, In : Nature genetics. 52, 1, p. 21-26 6 p.

    Research output: Contribution to journal › Comment/debate

    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 Jan 1, In : Endocrine journal. 67, 2, p. 211-218 8 p.

    Research output: Contribution to journal › Article

    Open Access

    • Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

    Uehara, T., Yamada, M., Umetsu, S., Nittono, H., Suzuki, H., Fujisawa, T., Takenouchi, T., Inui, A. & Kosaki, K., 2020 Jan 1, (Accepted/In press) In : Journal of Pediatrics.

    Research output: Contribution to journal › Article