Marisol Delea

B, Argentina

Last Updated: 09/26/2026

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Found 10 publications

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.

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

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.

Journal: Genes

Published: April 29, 2022

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Journal: Clinical endocrinology

Published: March 10, 2020

An update on genetic variants of the NKX2-5.

An update on genetic variants of the NKX2-5.

Journal: Human mutation

Published: October 27, 2019

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.

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.

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

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.

Journal: Genes

Published: June 29, 2018

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Journal: Human mutation

Published: July 08, 2017

Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.

Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.

Journal: Genes

Published: May 21, 2017

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Journal: Scientific reports

Published: July 24, 2016

Showing 1-10 of 10

Last Updated: 09/26/2026