Miriam E. Fabian-Reyna

Mexico City, DIF 04530, Mexico

Last Updated: 09/26/2026

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Found 23 publications

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Journal: Genes

Published: January 23, 2026

Propionic acidemia in Mexico: Clinical and genotypic spectrum.

Propionic acidemia in Mexico: Clinical and genotypic spectrum.

Journal: Molecular genetics and metabolism reports

Published: January 21, 2026

Identifying Early Metabolic Risks of Obesity in Mexican Children and Adolescents from a Semi-Rural Community in Mexico: Beyond BMI and into Biochemical and Nutritional Markers.

Identifying Early Metabolic Risks of Obesity in Mexican Children and Adolescents from a Semi-Rural Community in Mexico: Beyond BMI and into Biochemical and Nutritional Markers.

Journal: Nutrients

Published: June 03, 2025

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Journal: International journal of molecular sciences

Published: May 22, 2025

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.

Journal: Molecular genetics and metabolism reports

Published: March 14, 2025

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Journal: Molecular genetics and metabolism reports

Published: September 19, 2024

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

Journal: International journal of molecular sciences

Published: August 12, 2024

First Molecular Diagnosis of Oestrus ovis (Linnaeus, 1758) Larvae Causing Conjunctival Ophthalmomyiasis in Mexico City, Mexico.

First Molecular Diagnosis of Oestrus ovis (Linnaeus, 1758) Larvae Causing Conjunctival Ophthalmomyiasis in Mexico City, Mexico.

Journal: Acta parasitologica

Published: May 29, 2024

Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.

Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.

Journal: Scientific reports

Published: December 15, 2023

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.

Journal: Life (Basel, Switzerland)

Published: September 26, 2022

Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?

Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?

Journal: Journal of cutaneous pathology

Published: April 11, 2022

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.

Journal: Diagnostics (Basel, Switzerland)

Published: March 14, 2022

Showing 1-12 of 23

Last Updated: 09/26/2026