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The investigation of genetic etiology in familial cases with congenital hypothyroidism
(Karger, 2019)
Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this ...
A novel candidate frameshift mutation for catecholaminergic polymorphic ventricular tchycardia
(Nature Publishing Group, 2019)
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