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What Have We Learned from Turkish Familial Hypercholesterolemia Registries (A-HIT1 And A-HIT2)?
(2018)
Background and aims: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of largescale ...
Clinical Findings and Mutation Analysis of NF1 Patients in Turkey
(2018)
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant ...