1
TITLE: A protocol for karyotyping and genetic editing of induced pluripotent stem cells with homology-directed repair mediated CRISPR/Cas9
AUTHORS: Lobo, Silvana; Barbosa Matos, Rita; Doria, Sofia ; Pedro, Ana Maria; Brito, Ana; Ferreira, Daniel; Oliveira, Carla;
PUBLISHED: 2025, SOURCE: BIOLOGY METHODS & PROTOCOLS, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
2
TITLE: Genetic study on candidates for oocyte donation
AUTHORS: Sara Araújo; Ana Paula Neto Maria João Pinho; Sofia Dória ; Alberto Barros; Filipa Carvalho;
PUBLISHED: 2025, SOURCE: JORNAL BRASILEIRO DE REPRODUCAO ASSISTIDA, VOLUME: 29, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
3
TITLE: Immune Dysregulation and Trophoblastic Dysfunction as a Potential Cause of Idiopathic Recurrent Pregnancy Loss
AUTHORS: Vasconcelos, Sara; Braga, Ana Costa; Moustakas, Ioannis; Cavadas, Bruno; Santos, Mariana; Canicais, Carla; Ramalho, Carla; Lopes, Susana M. Chuva de Sousa; Marques, Cristina Joana ; Doria, Sofia ;
PUBLISHED: 2025, SOURCE: BIOLOGY-BASEL, VOLUME: 14, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
TITLE: Transcriptomic analysis and epigenetic regulators in human oocytes at different stages of oocyte meiotic maturation
AUTHORS: Canicais, Carla; Sobral, Daniel; Vasconcelos, Sara; Cunha, Mariana; Pinto, Alice; Guimaraes, Joana Mesquita; Santos, Fatima; Barros, Alberto; Doria, Sofia ; Marques, C. Joana ;
PUBLISHED: 2025, SOURCE: DEVELOPMENTAL BIOLOGY, VOLUME: 519
INDEXED IN: Scopus WOS CrossRef
5
TITLE: Analysis of the human oocyte transcriptome throughout meiotic maturation
AUTHORS: Canicais, Carla; Sobral, Daniel; Vasconcelos, Sara; Cunha, Mariana; Pinto, Alice; Guimaraes, Joana Mesquita; Barros, Alberto; Doria, Sofia ; Marques, Joana;
PUBLISHED: 2024, SOURCE: 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG) in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
6
TITLE: Analysis of the placental transcriptome in pregnancy losses
AUTHORS: Vasconcelos, Sara; Moustakas, Loannis; Canicais, Carla; Ramalho, Carla; de Sousa Lopes, Susana Chuva; Marques, Joana; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG) in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
7
TITLE: Hao-Fountain Syndrome: first reports of inherited variants
AUTHORS: da Rocha, Diogo Fernandes; Santos, Vera; Doria, Sofia ; Grangeia, Ana;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
8
TITLE: Impact of copy number variants in epilepsy plus neurodevelopment disorders  Full Text
AUTHORS: Joao, Sofia; Quental, Rita; Pinto, Joel ; Almeida, Carolina; Santos, Helena; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 117
INDEXED IN: Scopus WOS CrossRef
9
TITLE: Impact of recurrent 17q12 microdeletion across three generations: a family with complete penetrance
AUTHORS: Beleza, Ines; Vilan, Ana; Doria, Sofia ; Grangeia, Ana;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
10
TITLE: Intragenic Deletions in NRXN1: Insights from aCGH Analysis in Neurodevelopmental Disorders
AUTHORS: Doria, Sofia ; Pinto, Joel; Almeida, Carolina; Pinho, Maria Joao; Santos, Maria Helena; Grangeia, Ana;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
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