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 familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R
Nakajima, K., Suzuki, H., Yamamoto, M., Yamamoto, T., Kawai, T., Nakabayashi, K., Hata, K., Kosaki, K., Nakajima, H., Sano, S. & Kubo, A., 2022, (Accepted/In press) In: Journal of Dermatology.Research output: Contribution to journal › Article › peer-review
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An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions
Hayakawa, M., Matsubara, T., Mochizuki, Y., Takeuchi, C., Minamitani, M., Imai, M., Kosaki, K., Arai, T. & Murayama, S., 2022 Dec, In: BMC Neurology. 22, 1, 2.Research output: Contribution to journal › Article › peer-review
Open Access -
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders
Yamada, M., Suzuki, H., Shima, T., Uehara, T. & Kosaki, K., 2022 Feb, In: American Journal of Medical Genetics, Part A. 188, 2, p. 613-617 5 p.Research output: Contribution to journal › Article › peer-review