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Variants
Duque, Frederico
Status
UC Researcher
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Publications
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Date issued
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Results 1-3 of 3 (Search time: 0.004 seconds).
Issue Date | Title | Author(s) | Type | Access | |
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1 | 5-Jul-2019 | Genomic imbalances defining novel intellectual disability associated loci | Lopes, Fátima ; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico ; Rocha, Miguel ; Sá, Joaquim ; Oliveira, Guiomar ; Sá, Maria João ; Temudo, Teresa; Sousa, Susana; Marques, Carla; Lopes, Sofia Maia ; Gomes, Catarina; Barros, Gisela; Jorge, Arminda; Rocha, Felisbela; Martins, Cecília; Mesquita, Sandra; Loureiro, Susana; Cardoso, Elisa Maria; Cálix, Maria José; Dias, Andreia; Martins, Cristina; Mota, Céu R.; Antunes, Diana ; Dupont, Juliette; Figueiredo, Sara; Figueiroa, Sónia; Gama-de-Sousa, Susana; Cruz, Sara; Sampaio, Adriana ; Eijk, Paul; Weiss, Marjan M.; Ylstra, Bauke; Rendeiro, Paula; Tavares, Purificação; Reis-Lima, Margarida; Pinto-Basto, Jorge; Fortuna, Ana Maria; Maciel, Patrícia | article | openAccess |
2 | 2017 | Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia | Oliveira, Guiomar ; Mouga, Susana ; Duque, Frederico ; Café, Cátia ; Almeida, Joana ; The Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium | article | openAccess |
3 | 9-Aug-2023 | A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia | Martins, Mariana ; Oliveira, Ana Rafaela ; Martins, Solange ; Vieira, José Pedro; Perdigão, Pedro ; Fernandes, Ana Rita; Almeida, Luís Pereira de ; Palma, Paulo Jorge ; Sequeira, Diana Bela ; Santos, João Miguel Marques ; Duque, Frederico ; Oliveira, Guiomar ; Cardoso, Ana Luísa ; Peça, João ; Seabra, Catarina Morais | article | openAccess |