Margarida Venancio

Lisbon, 1169045, Portugal

Last Updated: 09/26/2026

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Found 15 publications

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.

Journal: HGG advances

Published: October 11, 2025

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Journal: International journal of molecular sciences

Published: March 11, 2025

Pachydysostosis of the fibula in a case of familial adenomatous polyposis.

Pachydysostosis of the fibula in a case of familial adenomatous polyposis.

Journal: European journal of medical genetics

Published: June 21, 2023

Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature.

Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature.

Journal: Annals of pediatric endocrinology & metabolism

Published: October 15, 2018

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Journal: European journal of medical genetics

Published: December 08, 2016

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Journal: Molecular cytogenetics

Published: August 10, 2015

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism.

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism.

Journal: Anais brasileiros de dermatologia

Published: July 12, 2015

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Journal: European journal of medical genetics

Published: May 17, 2015

12q21.2q22 deletion: a new patient.

12q21.2q22 deletion: a new patient.

Journal: American journal of medical genetics. Part A

Published: August 09, 2014

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Journal: Journal of medical genetics

Published: July 27, 2014

Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonance.

Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonance.

Journal: Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology

Published: June 09, 2013

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

Journal: Pediatric neurology

Published: May 11, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026