Associated Papers
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
Hutchcraft ML et al.
Journal of Personalized Medicine, 2022
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
López G et al.
Atherosclerosis, 2018
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML et al.
Genetic Counseling (geneva, Switzerland), 2008
Select a paper to view details