Liliana B. Dain
Buenos Aires, C, Argentina
Last Updated: 09/26/2026
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Found 23 publications
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.
Journal: Scientific reports
Published: March 21, 2025
Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment.
Journal: Frontiers in endocrinology
Published: July 15, 2022
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
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
Journal: Clinical dysmorphology
Published: March 29, 2019
Genetics and genomic medicine in Argentina.
Journal: Molecular genetics & genomic medicine
Published: October 19, 2018
Last Updated: 09/26/2026