This page shows the publications Kathryn Swoboda has written about Autopsy.
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A. 2014 Jan; 164A(1):17-28.
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. J Clin Invest. 2019 11 01; 129(11):4817-4831.
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