Helena C. Fernandes

LED Optrode with Integrated Temperature Sensing for Optogenetics

S. B. Goncalves, José M. Palha, Helena C. Fernandes et al. · Micromachines · 2018 · 40 citations · Full text

Engineering, Optoelectronic Devices, Biomedical Engineering +23

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

Laura Vilarinho, Maria Luı́s Cardoso, Paulo Gaspar et al. · Human Mutation · 2005 · 38 citations · Full text

Genetics, Pathology, Molecular Genetics +17

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Dulce Quelhas, Esmeralda Martins, Luı́sa Azevedo et al. · The Journal of Pediatrics · 2020 · 17 citations · Full text

Glycoproteomics, Genetic Disorder, Inherited Metabolic Disease +6

Portuguese case of Smith–McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene

Heloísa G. dos Santos, Helena C. Fernandes, José Luiz Nunes et al. · Clinical Dysmorphology · 2008 · 13 citations

Heloísa Gonçalves, Latin American Study, Spanish Literature +22

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in <i>FGFR3</i> encoding GLY380LYS

Heloísa G. dos Santos, Maria Rosário Almeida, Helena C. Fernandes et al. · American Journal of Medical Genetics Part A · 2007 · 12 citations