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RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype.

Okamoto N, Takata A, Miyake N, Matsumoto N. Okamoto N, et al. Congenit Anom (Kyoto). 2019 Nov;59(6):195-196. doi: 10.1111/cga.12327. Epub 2019 Mar 8. Congenit Anom (Kyoto). 2019. PMID: 30761613 No abstract available.

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N. Den K, et al. BMC Neurol. 2019 Oct 27;19(1):253. doi: 10.1186/s12883-019-1489-x. BMC Neurol. 2019. PMID: 31656175 Free PMC article.

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