Publications
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Filters: Keyword is Frameshift Mutation and Author is Gambin, Tomasz [Clear All Filters]
CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 ;50(6):468-473.
. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 ;96(4):612-22.
. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 ;167A(4):831-6.
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