Vanessa I. Romero

Quito, P, Ecuador

Last Updated: 09/26/2026

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Found 26 publications

Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies.

Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies.

Journal: Frontiers in molecular biosciences
Published: December 14, 2025

Decoding Breast Cancer: Emerging Molecular Biomarkers and Novel Therapeutic Targets for Precision Medicine.

Decoding Breast Cancer: Emerging Molecular Biomarkers and Novel Therapeutic Targets for Precision Medicine.

Journal: International journal of molecular sciences
Published: November 05, 2025

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.

Journal: Frontiers in pediatrics
Published: September 29, 2025

Genetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series.

Genetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series.

Journal: BMC oral health
Published: August 19, 2025

Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.

Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.

Journal: Human genomics
Published: August 19, 2025

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.

Journal: Frontiers in genetics
Published: July 09, 2025

Human papillomavirus, vaginal microbiota and metagenomics: the interplay between development and progression of cervical cancer.

Human papillomavirus, vaginal microbiota and metagenomics: the interplay between development and progression of cervical cancer.

Journal: Frontiers in microbiology
Published: November 04, 2024

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics
Published: October 21, 2024

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis.

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis.

Journal: Frontiers in nutrition
Published: February 22, 2024

TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.

TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.

Journal: Frontiers in cardiovascular medicine
Published: February 16, 2024

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

Journal: Frontiers in genetics
Published: February 08, 2024

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.

Journal: Frontiers in neurology
Published: January 25, 2024
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Last Updated: 09/26/2026