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Pharmacogenomics and Personalized Medicine|November 10, 2018
Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patientsJubby Marcela Galvez, Carlos Martin Restrepo, Nora Constanza Contreras, et al.
Fertility and Sterility|May 21, 2015
Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutationsDora Janeth Fonseca, Liliana Catherine Patiño, Yohjana Carolina Suárez, et al.
International Journal of Molecular Sciences|December 10, 2021
Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac ChannelopathiesWilliam A Agudelo, Sebastian Ramiro Gil-Quiñones, Alejandra Fonseca, et al.
JIMD Reports|February 23, 2013
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseMónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, et al.
The American Journal of Pathology|December 4, 2013
Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy lossMagalie Vatin, Sylvie Bouvier, Linda Bellazi, et al.
Mitochondrion|April 9, 2013
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutationsOscar Ortega-Recalde, Dora Janeth Fonseca, Liliana Catherine Patiño, et al.
Reproductive Biomedicine Online|September 24, 2014
BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failureDora Janeth Fonseca, Oscar Ortega-Recalde, Clara Esteban-Perez, et al.
BMC Medical Genomics|July 21, 2019
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian populationBrian Ramírez, María José Niño-Orrego, Daniel Cárdenas, et al.
Molecular Syndromology|June 22, 2018
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2Marta-Catalina Miranda-Fernández, Silvia Ramírez-Oyaga, Carlos M Restrepo, et al.
Plos One|June 12, 2013
Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiologyOscar Ortega-Recalde, Jéssica Inés Vergara, Dora Janeth Fonseca, et al.
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