Juliana Lores

Cali, VAC, Colombia

Last Updated: 09/26/2026

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Found 18 publications

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.

Journal: International journal of molecular sciences

Published: June 17, 2026

Birth Defects and Mortality-Related Factors in Colombia: Insights from a Surveillance Cohort (2002-2019).

Birth Defects and Mortality-Related Factors in Colombia: Insights from a Surveillance Cohort (2002-2019).

Journal: Sage open pediatrics

Published: June 20, 2025

Targeting cardiomyopathies associated with RASopathies: the role of mitogen-activated protein kinase inhibitors and therapeutic challenges.

Targeting cardiomyopathies associated with RASopathies: the role of mitogen-activated protein kinase inhibitors and therapeutic challenges.

Journal: Pharmacogenetics and genomics

Published: June 03, 2025

Epidemiological characterization of clubfoot: a population-based study of a surveillance program in Colombia.

Epidemiological characterization of clubfoot: a population-based study of a surveillance program in Colombia.

Journal: Journal of pediatric orthopedics. Part B

Published: April 30, 2024

FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association.

FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association.

Journal: Arquivos brasileiros de cardiologia

Published: November 17, 2023

A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020.

A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020.

Journal: Birth defects research

Published: September 02, 2023

Hypertrophic Cardiomyopathy in a Latin American Center: A Single Center Observational Study.

Hypertrophic Cardiomyopathy in a Latin American Center: A Single Center Observational Study.

Journal: Journal of clinical medicine

Published: June 08, 2023

Importance of genetics in pediatric nephrology

Importance of genetics in pediatric nephrology

Journal: Andes pediatrica : revista Chilena de pediatria

Published: August 17, 2022

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.

Journal: Pharmacogenomics and personalized medicine

Published: July 02, 2022

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

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

Journal: Pharmacogenomics and personalized medicine

Published: July 01, 2022

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: October 25, 2020

Ophthalmic genetics in South America.

Ophthalmic genetics in South America.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: June 19, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026