Desiree Deconte
Porto Alegre, RS, Brazil
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
HIRA, NKX2-5, and GATA4 Alterations versus Cardiac Malformations Related to 22q11.2 Deletion Syndrome.
Journal: Molecular syndromology
Published: February 03, 2025
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.
Journal: International journal of molecular sciences
Published: April 26, 2024
Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.
Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: July 04, 2022
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.
Journal: Journal of pediatric genetics
Published: April 30, 2021
Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
Journal: American journal of medical genetics. Part A
Published: May 28, 2020
Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.
Journal: Journal of pediatric genetics
Published: January 13, 2020
Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.
Journal: Journal of pediatric genetics
Published: December 31, 2019
Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case.
Journal: Journal of pediatric genetics
Published: November 20, 2019
Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.
Journal: Journal of pediatric genetics
Published: September 02, 2019
Showing 1-9 of 9
Last Updated: 09/26/2026