Melisa Taboas

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

Classic Prader-Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes.

Classic Prader-Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes.

Journal: Clinical genetics
Published: November 28, 2024

Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.

Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.

Journal: Clinical dysmorphology
Published: August 30, 2023

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

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

Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.

Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.

Journal: Endocrine
Published: April 17, 2015

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.

Journal: PloS one
Published: November 06, 2013

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.

Journal: Case reports in genetics
Published: May 13, 2013
Showing 1-10 of 10

Last Updated: 09/26/2026