Lucia D. Espeche
Las Heras, M C1425ASQ, Argentina
Last Updated: 09/26/2026
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Found 15 publications
Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat.
Journal: Reproduction, fertility, and development
Published: March 19, 2022
Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.
Journal: Archives of biochemistry and biophysics
Published: September 09, 2021
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Journal: Clinical endocrinology
Published: March 10, 2020
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Journal: Molecular biology reports
Published: February 03, 2020
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.
Journal: Cytogenetic and genome research
Published: September 19, 2019
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Journal: Genes
Published: June 29, 2018
Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families
Journal: Archivos argentinos de pediatria
Published: March 29, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Journal: Human mutation
Published: July 08, 2017
Last Updated: 09/26/2026