Research output per year
Research output per year
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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.
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Profiles
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A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty
Saito, M., Hirano, D., Kobayashi, H., Kosaki, K. & Miyata, I., 2021 Mar, In: Pediatrics International. 63, 3, p. 338-339 2 p.Research output: Contribution to journal › Article › peer-review
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A dyadic approach to the delineation of diagnostic entities in clinical genomics
Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W. & 27 others, , 2021 Jan 7, In: American Journal of Human Genetics. 108, 1, p. 8-15 8 p.Research output: Contribution to journal › Review article › peer-review
8 Citations (Scopus) -
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
Ueda, K., Araki, A., Fujita, A., Matsumoto, N., Uehara, T., Suzuki, H., Takenouchi, T., Kosaki, K. & Okamoto, N., 2021 Dec, In: Human Genome Variation. 8, 1, 24.Research output: Contribution to journal › Article › peer-review
Open Access