This page shows the publications Kathryn Swoboda has written about Abnormalities, Multiple.
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology. 2016 Sep 13; 87(11):1131-9.
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. Hum Mutat. 2011 Apr; 32(4):456-66.
Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602.
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