Sofia Dória Príncipe dos Santos Cerveira


AuthID: R-000-K7H

Confirmed Publications: 82



11
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
IN MY: ORCID | CIÊNCIAVITAE
12
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
13
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
14
TITLE: Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease
AUTHORS: Goncalves, Pedro Lisboa; Diniz, Hugo; Tavares, Isabel; Doria, Sofia ; Dong, Juan; Kyriss, McKenna; Fairbanks, Lynette; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: NEPHRON, VOLUME: 148, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 1 Unpaywall
IN MY: ORCID | CIÊNCIAVITAE
15
TITLE: Syncytiotrophoblast Markers Are Downregulated in Placentas from Idiopathic Stillbirths  Full Text
AUTHORS: Vasconcelos, Sara; Moustakas, Ioannis; Branco, Miguel R.; Guimaraes, Susana; Canicais, Carla; van der Helm, Talia; Ramalho C; Marques, Cristina Joana ; Lopes, Susana M. Chuva de Sousa; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 1 Unpaywall
IN MY: ORCID | CIÊNCIAVITAE
16
TITLE: X-chromosome inactivation pattern and telomere length in recurrent pregnancy loss
AUTHORS: Vaz, Diane; Vasconcelos, Sara; Canicais, Carla; Costa, Beatriz; Ramalho C; Marques, Joana ; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: REPRODUCTIVE BIOLOGY, VOLUME: 24, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: ARE X-CHROMOSOME INACTIVATION PATTERN AND TELOMERE LENGTH UNDERLYING RECURRENT PREGNANCY LOSS?  Full Text
AUTHORS: Vaz, Diane; Vasconcelos, Sara; Canicais, Carla; Costa, Beatriz; Ramalho, Carla; Marques, Joana ; Doria, Sofia ;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
18
19
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 Unpaywall
20
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
IN MY: ORCID | CIÊNCIAVITAE
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