Susana Martinez Figueroa
0000-0001-5502-5481
Hospital de la Santa Creu i Sant Pau
3 papers found
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Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia
Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients
Autosomal dominant hypercholesterolemia in Catalonia: correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
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