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CALDERON GIADROSIC, JUAN FRANCISCO
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome
NPC1 as a Modulator of Disease Severity and Viral Entry of SARSCoV- 2
Rare diseases in Chile: challenges and recommendations in universal health coverage context
A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids
Regulation of Connexins Expression Levels by MicroRNAs, an Update
Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease
Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency
Cervical Artery Dissection in Postpartum Women after Cesarean and Vaginal Delivery