11
TITLE: Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study
AUTHORS: Beatriz Sousa; Ana Grangeia ; Joel Pinto ; Helena Santos; Sofia Dória ;
PUBLISHED: 2023, SOURCE: Porto Biomedical Journal, VOLUME: 8, ISSUE: 1
INDEXED IN: CrossRef
12
TITLE: Klinefelter syndrome: The characterization of the clinical and sociological features of 51 patients
AUTHORS: Mendonca, Fernando ; Souto, Selma ; Doria, Sofia ; Carvalho, Davide ;
PUBLISHED: 2023, SOURCE: REVISTA INTERNACIONAL DE ANDROLOGIA, VOLUME: 21, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 1
13
TITLE: Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel ; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia ; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
14
TITLE: The role of DNA hydroxymethylation and TET enzymes in placental development and pregnancy outcome  Full Text
AUTHORS: Vasconcelos, Sara; Canicais, Carla; Lopes, Susana M. Chuva de Sousa; Marques, C. Joana ; Doria, Sofia ;
PUBLISHED: 2023, SOURCE: CLINICAL EPIGENETICS, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 7 Unpaywall
15
TITLE: Clinical Findings on Chromosome Copy Number Variations
AUTHORS: Leitao, Filipa; Grangeia, Ana ; Pinto, Joel ; Passas, Armanda; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: NEUROPEDIATRICS, VOLUME: 53, ISSUE: 04
INDEXED IN: Scopus WOS CrossRef: 2
16
TITLE: Clinical outcomes of 77 TESE treatment cycles in non-mosaic Klinefelter syndrome patients
AUTHORS: Barros, P; Cunha, M; Barros, A ; Sousa, M ; Dória, S ;
PUBLISHED: 2022, SOURCE: Jornal Brasileiro de Reproducao Assistida, VOLUME: 26, ISSUE: 3
INDEXED IN: Scopus CrossRef: 2 Unpaywall
17
TITLE: EXPRESSION ANALYSIS OF EPIGENETIC REGULATORS IN HUMAN PLACENTAS FROM IDIOPATHIC PREGNANCY LOSSES  Full Text
AUTHORS: Vasconcelos, Sara; Pinto, Joel; Ramalho C ; Chuva de Sousa Lopes, Susana M.; Marques, Joana ; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
18
TITLE: Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses  Full Text
AUTHORS: Costa, Beatriz C.; Grangeia, Ana ; Galvao, Joana; Vaz, Diane; Melo, Monica; Carraca, Teresa; Ramalho C ; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: ANNALS OF DIAGNOSTIC PATHOLOGY, VOLUME: 61
INDEXED IN: Scopus WOS CrossRef: 1
19
TITLE: SKEWED X-CHROMOSOME INACTIVATION IN RECURRENT PREGNANCY LOSS  Full Text
AUTHORS: Vaz, Diane; Vasconcelos, Sara; Canicais, Carla; Ramalho C ; Fernandes, Susana; Marques, Joana ; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
20
TITLE: THE HUMAN TRANSCRIPTOMIC LANDSCAPE OF OOCYTES AND CUMULUS CELLS DURING OOCYTE MATURATION  Full Text
AUTHORS: Rodrigues, Carla Canicais; Cunha, Mariana; Pinto, Alice; Barros, Alberto; Guimaraes, Joana; Santos, Fatima; Doria, Sofia ; Marques, Joana ;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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