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Journal of Genetics|September 23, 2021
X-chromosome inactivation: implications in human diseaseGuilherme Pereira, Sofia DóriaActa Medica Portuguesa|March 4, 2014
[Prevalence of chromosomal abnormalities in spontaneous abortions or fetal deaths]Raquel Bastos, Carla Ramalho, Sofia DóriaPorto Biomedical Journal|October 10, 2019
Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridizationMarta Freitas, Joel Pinto, Carla Ramalho, et al.Revista Internacional De Andrologia|April 13, 2023
Klinefelter syndrome: The characterization of the clinical and sociological features of 51 patientsFernando Mendonça, Selma Souto, Sofia Dória, et al.Porto Biomedical Journal|December 10, 2020
Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counselingFrancisco Barros, Filipa Carvalho, Alberto Barros, et al.Fetal and Pediatric Pathology|March 24, 2026
Retrospective Analysis of Morphological Anomalies in Fetuses from Spontaneous Abortions: A Clinical and Pathological StudyÍris Costa Rodrigues, Susana Guimarães, Sofia Dória, et al.American Journal of Medical Genetics. Part A|September 5, 2015
Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalitiesRita Jorge, Carmen Silva, Sofia Águeda, et al.JBRA Assisted Reproduction|November 9, 2021
Clinical outcomes of 77 TESE treatment cycles in non-mosaic Klinefelter syndrome patientsPedro Barros, Mariana Cunha, Alberto Barros, et al.Journal of Assisted Reproduction and Genetics|April 28, 2012
Normal sperm in a 2;2 homologous male translocation carrierCarolina Almeida, Sofia Dória, Maria Moreira, et al.Porto Biomedical Journal|May 22, 2023
Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional studyBeatriz Sousa, Ana Grangeia, Joel Pinto, et al.Pageof 15