author-photo

Sofía Gouveia

University of Santiago de Compostela

5

Papers

135

Citations

Citation Trend

Filter By

Papers (4) Sort By

Journal Conference Others

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

2018 International Journal of Molecular Sciences
Show All
- Source
- Cite
- Save
Citations (9)
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

2017 Neuromuscular Disorders
Show All
- Source
- Cite
- Save
Citations (19)
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

2017 Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (11)
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

2017 Current Medicinal Chemistry
Show All
- Source
- Cite
- Save
Citations (60)