List of works - Sebastian Silva - Paulina

List of works by Sebastian Silva

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction

scientific article published on 14 May 2020

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene

scientific article published on 19 May 2017

SOFT syndrome in a patient from Chile

scientific article published on 20 December 2018

The second point mutation in PREPL: a case report and literature review

scientific article published on 26 February 2018

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