Renata C. Oliveira

R. Dr. Roberto Frias 400
Porto, 4200465, Portugal

Last Updated: 09/26/2026

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Found 16 publications

Tailoring Matrix Toughness for High-Performance Composites in Cryogenic Applications.

Tailoring Matrix Toughness for High-Performance Composites in Cryogenic Applications.

Journal: Polymers

Published: June 29, 2026

Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant.

Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant.

Journal: Parkinsonism & related disorders

Published: July 10, 2025

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Journal: Ophthalmology. Glaucoma

Published: October 25, 2024

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

Journal: Annals of human genetics

Published: May 11, 2024

Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.

Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.

Journal: Gene

Published: July 18, 2023

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

Journal: Cancers

Published: July 30, 2021

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

Journal: European journal of ophthalmology

Published: March 12, 2021

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

Journal: American journal of medical genetics. Part A

Published: January 17, 2020

Recommendations for genetic testing in cardiology: Review of major international guidelines.

Recommendations for genetic testing in cardiology: Review of major international guidelines.

Journal: Revista portuguesa de cardiologia

Published: September 01, 2019

Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Journal: Journal of pediatric genetics

Published: August 21, 2019

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.

Journal: Hormone research in paediatrics

Published: November 07, 2018

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Journal: Journal of medical genetics

Published: October 06, 2015

Showing 1-12 of 16

Last Updated: 09/26/2026