Juliana Lores

9PUBLICATIONS
42CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical biochemistry - lipidsPaediatrics not elsewhere classifiedGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (9)

|Sep 30, 2026
Homozygous TNNC1-A8V Causes Impaired Diastolic Function and Restrictive Cardiomyopathy in Children and Mice.

|Sep 10, 2026
Clinical and functional evidence supporting pathogenicity of a novel APOA5 variant in familial chylomicronemia syndrome.

|Jun 26, 2024
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association.

Ana M Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano

|Nov 08, 2022
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.

Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo

|Nov 01, 2022
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1.

Lina Perafan-Valdes, Sebastian Giraldo-Ocampo, Juliana Lores

|Dec 10, 2020
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.

Juliana Lores, Carlos E Prada, Diana Ramírez-Montaño

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Frequent Collaborators

5 joint publications

Harry Pachajoa

1 joint publications

Gabriel D Pinilla-Monsalve

1 joint publications

José A Nastasi-Catanese

1 joint publications

Malena Daich Varela