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Exome sequencing in a large family with Tourette Syndrome/Chronic Tic Disorder
(Nature Publishing Group, 2018)
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Development of the most comprehensive genetic test based on next generation sequencing for diagnosis of congenital hypothyroidism
(Nature Publishing Group, 2018)
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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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