Jorge Diogo Da Silva (Jorge D Da Silva)

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 8

Top Topics

Prefrontal Cortex

Attention Deficit Hyperactivity Disorder

Top Venues

Journal of community genetics

Endocrine, metabolic & immune disorders drug targets

Pediatric research

This page only lists publications with an associated author ORCID identifier.

Publications

Jorge Diogo Da Silva, Isaura Ribeiro, Carla Caseiro, Eugénia Pinto, Sónia Rocha, Helena Ribeiro, Célia Ferreira, Elisabete Silva, Francisco Laranjeira, Nataliya Tkachenko, Lúcia Lacerda, Dulce Quelhas
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients. Endocrine, metabolic & immune disorders drug targets (2023)
Jorge Diogo Da Silva, Ângela Pereira, Ana Rita Soares, Arlindo Guimas, Sara Rocha, Márcio Cardoso, Cristina Garrido, Célia Azevedo Soares, Isabel Serra Nunes, Ana Maria Fortuna, Dulce Quelhas, Sónia Figueiroa, Rosa Ribeiro, Manuela Santos, Esmeralda Martins, Nataliya Tkachenko
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V. Pediatric research (2023)
Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, Nataliya Tkachenko
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication. Biomedicines 10 (12) (2022)
Mayla A A Dantas, Jorge Diogo Da Silva, Nataliya Tkachenko, Milena Paneque
Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service. Journal of community genetics (2022)
Cláudia Antunes, Jorge Diogo Da Silva, Sónia Guerra-Gomes, Nuno Dinis Alves, Eduardo Loureiro-Campos, Luisa Pinto, C Joana Marques
Tet3 Deletion in Adult Brain Neurons of Female Mice Results in Anxiety-like Behavior and Cognitive Impairments. Molecular neurobiology 59 (8) (2022)
Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1). Biomedicines 11 (1) (2022)
Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1). Biomedicines 11 (1) (2022)
Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, Nataliya Tkachenko
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication. Biomedicines 10 (12) (2022)