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FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia.
- Published in:
- Molecular Medicine, 2019, v. 25, n. 1, p. N.PAG, doi. 10.1186/s10020-019-0104-3
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- Publication type:
- Article
Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 Assay for the Detection of SARS-CoV-2 in Nasopharyngeal Swab Samples.
- Published in:
- Methods & Protocols, 2022, v. 5, n. 5, p. 73, doi. 10.3390/mps5050073
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- Publication type:
- Article
Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder.
- Published in:
- 2013
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- Publication type:
- journal article
Sequence analysis of the <i>ADRA2A</i> coding region in children affected by attention deficit hyperactivity disorder.
- Published in:
- Neurological Sciences, 2013, v. 34, n. 12, p. 2219, doi. 10.1007/s10072-013-1569-4
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- Publication type:
- Article
A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 5, p. 400, doi. 10.3390/jpm11050400
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- Publication type:
- Article
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.
- Published in:
- Frontiers in Pharmacology, 2023, v. 14, p. 1, doi. 10.3389/fphar.2023.1047854
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- Publication type:
- Article
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.931531
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- Publication type:
- Article
FRECUENCIA DE MUTACIÓN Y DE VARIANTES DE SECUENCIA PARA LOS GENES BRCA1 Y BRCA2 EN UNA MUESTRA DE MUJERES COLOMBIANAS CON SOSPECHA DE SÍNDROME DE CÁNCER DE MAMA HEREDITARIO: SERIE DE CASOS.
- Published in:
- Revista Colombiana de Obstetricia y Ginecologia, 2015, v. 66, n. 4, p. 287, doi. 10.18597/rcog.294
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- Publication type:
- Article
Genetic and Molecular Aspects of Drug-Induced QT Interval Prolongation.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8090, doi. 10.3390/ijms22158090
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- Publication type:
- Article
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00623-7
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- Publication type:
- Article
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2021, v. 14, p. 287, doi. 10.2147/PGPM.S289869
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- Publication type:
- Article
A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2020, v. 13, p. 59, doi. 10.2147/PGPM.S228709
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- Publication type:
- Article
Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2018, v. 11, p. 169, doi. 10.2147/PGPM.S170515
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- Publication type:
- Article
Association between Paraoxonase-1 p.Q192R Polymorphism and Coronary Artery Disease susceptibility in the Colombian Population.
- Published in:
- Vascular Health & Risk Management, 2021, v. 17, p. 689, doi. 10.2147/VHRM.S330766
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- Publication type:
- Article
Association between Paraoxonase-1 p.Q192R Polymorphism and Coronary Artery Disease susceptibility in the Colombian Population.
- Published in:
- 2021
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- Publication type:
- journal article
A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 689, doi. 10.1002/ajmg.a.35215
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- Publication type:
- Article
Asociación entre los genes bdnf, comt y mc1r con trastorno depresivo mayor en pacientes colombianos.
- Published in:
- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 134, doi. 10.31260/RepertMedCir.01217372.1584
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- Publication type:
- Article
Impacto de variantes moleculares de BCHE en el Bloqueo Neuromuscular Prolongado: un reporte de caso.
- Published in:
- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 5, doi. 10.31260/RepertMedCir.01217372.1584
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- Publication type:
- Article
Transcriptomic analysis of FUCA1 knock‐down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions.
- Published in:
- Experimental Dermatology, 2018, v. 27, n. 6, p. 663, doi. 10.1111/exd.13532
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- Publication type:
- Article
Machine Learning for Prediction of Stable Warfarin Dose in US Latinos and Latin Americans.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.749786
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- Publication type:
- Article
Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064692
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- Publication type:
- Article
THBD sequence variants potentially related to recurrent pregnancy loss.
- Published in:
- Reproductive Biology & Endocrinology, 2017, v. 15, p. 1, doi. 10.1186/s12958-017-0311-0
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- Publication type:
- Article
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1267, doi. 10.1007/s00439-019-02066-w
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- Publication type:
- Article
Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy.
- Published in:
- Frontiers in Pharmacology, 2020, v. 11, p. 1, doi. 10.3389/fphar.2020.00555
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- Publication type:
- Article
Frecuencia de la mutación F508del en estudiantes de la Facultad de Medicina de la Universidad del Rosario, Bogotá, Colombia.
- Published in:
- Colombia Medica, 2007, v. 38, n. 4, p. 352, doi. 10.25100/cm.v38i4.519
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- Publication type:
- Article
Hemofilia: diagnóstico molecular y alternativas de tratamiento.
- Published in:
- Colombia Medica, 2007, v. 38, n. 3, p. 308, doi. 10.25100/cm.v38i3.515
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- Publication type:
- Article
The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing.
- Published in:
- PLoS ONE, 2024, v. 19, n. 7, p. 1, doi. 10.1371/journal.pone.0306445
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- Publication type:
- Article
Contexto genómico de virulencia y resistencia antimicrobiana de ST131 y ST1193 en infecciones por ExPEC en Colombia mediante secuenciación de lecturas largas.
- Published in:
- Biomédica: Revista del Instituto Nacional de Salud, 2023, v. 43, p. 168
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- Publication type:
- Article
3C9 – Contexto genómico de virulencia y resistencia antimicrobiana de ST131 y ST1193 en infecciones por ExPEC en Colombia mediante secuenciación de lecturas largas.
- Published in:
- Biomédica: Revista del Instituto Nacional de Salud, 2023, v. 43, p. 168
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- Publication type:
- Article
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0556-x
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- Publication type:
- Article
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.
- Published in:
- Application of Clinical Genetics, 2024, v. 17, p. 57, doi. 10.2147/TACG.S444546
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- Publication type:
- Article
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 399, doi. 10.2147/TACG.S317721
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- Publication type:
- Article
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.
- Published in:
- Application of Clinical Genetics, 2020, v. 13, p. 233, doi. 10.2147/TACG.S282240
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- Publication type:
- Article
Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: a familiar case with recombination event.
- Published in:
- 2012
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- Publication type:
- Journal Article
Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación.
- Published in:
- Revista Ciencias de la Salud, 2012, v. 10, n. 1, p. 83
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- Publication type:
- Article
Análisis de deleciones en 15 exones situados dentro y fuera del hot spot mutacional del gen de la distrofina en pacientes con distrofia muscular de Duchenne.
- Published in:
- Revista Ciencias de la Salud, 2009, v. 7, n. 2, p. 15
- By:
- Publication type:
- Article
Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57982-3
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- Publication type:
- Article