Publication & Citation Trends
Publications
35 total
Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification PDF
Cited by 33
OpenAlex
The Endoplasmic Reticulum-Mitochondria Encounter Structure Complex Coordinates Coenzyme Q Biosynthesis PDF
Cited by 49
OpenAlex
A known pathogenic variant in the essential mitochondrial translation gene <i>RMND1</i> causes a Perrault‐like syndrome with renal defects PDF
Cited by 23
OpenAlex
Research Topics
Mitochondrial Function and Pathology
(6)
Cardiomyopathy and Myosin Studies
(6)
Genomic variations and chromosomal abnormalities
(5)
Genomics and Rare Diseases
(5)
Congenital heart defects research
(5)
Affiliations
University of Lisbon
Centro de Genética Clínica
Unidade Local de Saúde de São José
Hospital de São José
Hospital de Dona Estefânia