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Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene Cheon, Chong Kun; Lim, So-Hee; Kim, Yoo-Mi; Kim, Doyoun; Lee, Na-Yoon; Yoon, Tae-Sung; Kim, Nam-Soon; et al, SCIENTIFIC REPORTS, v.7, no.1, pp.12527 - 12527, 2017-10 |
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability Hamdan, Fadi F.; Gauthier, Julie; Araki, Yoichi; Lin, Da-Ting; Yoshizawa, Yuhki; Higashi, Kyohei; Park, A-Reum; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.88, no.3, pp.306 - 316, 2011-03 |
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