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Molecular Cytogenetics|December 16, 2014
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowthEunice Matoso, Fabiana Ramos, José Ferrão, et al.
Oxford Medical Case Reports|May 31, 2021
DEPDC5 variant in focal cortical dysplasia: a case report and review of the literatureJoana Jesus-Ribeiro, Cristina Pereira, Conceição Robalo, et al.
Fetal and Pediatric Pathology|October 30, 2023
Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal TranslucencyMiguel Saraiva, Vera M F Santos, Lina Ramos, et al.
Endocrinology, Diabetes & Metabolism Case Reports|September 7, 2022
A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal periodInês Henriques Vieira, Nádia Mourinho Bala, Fabiana Ramos, et al.
Investigative Ophthalmology & Visual Science|December 23, 2011
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1Maria José Ribeiro, Inês Ribeiro Violante, Inês Bernardino, et al.
Bone|January 30, 2026
Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature reviewDaniela Oliveira, Pedro M Almeida, Sofia Franco, et al.
Food Chemistry|May 5, 2022
Enzymatic complex for broilers fed on a diet containing different levels of Distiller Dried Grains with SolublesDeibity Alves Cordeiro, Fabiana Ramos Dos Santos, Hyalo Batista Dos Santos, et al.
ISRN Obstetrics and Gynecology|June 4, 2011
Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007Fabiana Ramos, Sofia Maia, Miguel Branco, et al.
Plos One|June 23, 2012
Abnormal brain activation in neurofibromatosis type 1: a link between visual processing and the default mode networkInês R Violante, Maria J Ribeiro, Gil Cunha, et al.
The Journal of Molecular Diagnostics : JMD|May 23, 2017
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing SyndromesPaula Paulo, Pedro Pinto, Ana Peixoto, et al.
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