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
Research output
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A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants
Takahashi, Y., Kubota, M., Kosaki, R., Kosaki, K. & Ishiguro, A., 2021 Mar, In: Brain and Development. 43, 3, p. 464-469 6 p.Research output: Contribution to journal › Article › peer-review
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ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Sasaki, M., Sumitomo, N., Shimizu-Motohashi, Y., Takeshita, E., Kurosawa, K., Kosaki, K., Iwama, K., Mizuguchi, T. & Matsumoto, N., 2021 Jan, In: Developmental Medicine and Child Neurology. 63, 1, p. 111-115 5 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus) -
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
Nishina, S., Hosono, K., Ishitani, S., Kosaki, K., Yokoi, T., Yoshida, T., Tomita, K., Fukami, M., Saitsu, H., Ogata, T., Ishitani, T., Hotta, Y. & Azuma, N., 2021, (Accepted/In press) In: Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
Open Access