Gabriela R. Costa-Correia - Publications

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: October 31, 2025

Whole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts.

Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Published: October 25, 2024

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Journal: American journal of medical genetics. Part A

Published: May 25, 2024

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

Journal: Genes

Published: March 22, 2024

Novel variants in the SOX11 gene: clinical description of seven new patients.

Journal: European journal of human genetics : EJHG

Published: December 01, 2023

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.

Journal: Genes

Published: November 25, 2022

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.

Journal: Clinical genetics

Published: June 03, 2022

Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis.

Journal: Genetics and molecular biology

Published: January 04, 2021