M. Abreu-González

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect

I. Ibarra-González, M. Vela-Amieva, M. A. Alcántara-Ortigoza, 2015, Clinical genetics.

From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3

M. Abreu-González, S. Contreras-Capetillo, 2019, Journal of Rare Diseases Research & Treatment.

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

C. E. Villarroel, P. Pérez-Vera, C. Salas-Labadía, 2021, European Journal of Medical Genetics.

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

A. Luna-Angulo, A. Cervantes, M. Abreu-González, 2013, Case reports in genetics.

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

H. Freeze, M. He, H. Mora-Montes, 2021, Frontiers in Genetics.

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

H. Freeze, H. Mora-Montes, K. Raymond, 2021, Frontiers in Genetics.