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American Journal of Medical Genetics. Part A|May 18, 2021
Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcomeCarla Fernandes, Alexandra Paúl, Maria Margarida Venâncio, et al.Radiology Case Reports|October 25, 2022
Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reportsAndreia de Vasconcelos Gaspar, Miguel Branco, Eulália Galhano, et al.European Journal of Medical Genetics|November 14, 2022
Advantages of current fetal neuroimaging and genomic technologies in prenatal diagnosis: A clinical casePedro M Almeida, Joaquim Sá, Miguel Branco, et al.Journal of Pediatric Ophthalmology and Strabismus|April 24, 2023
Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 VariantsVítor Miranda, Liliana Cortez, Joana Rosmaninho-Salgado, et al.Endocrine, Metabolic & Immune Disorders Drug Targets|October 20, 2023
Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case ReportSílvia Reigada, Constança Santos, Fabiana Ramos, et al.JCEM Case Reports|April 23, 2026
Early GH therapy and neurodevelopmental outcome in a child with compound heterozygous IGF1R variantsMariana Sá Pinto, Mariana Oliveira, Tomás Ferrão, et al.Journal of Neurodevelopmental Disorders|February 25, 2014
Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficitsMaria J Ribeiro, Otília C d'Almeida, Fabiana Ramos, et al.Revista De Saude Publica|December 25, 2010
Surveillance of adverse effects following vaccination and safety of immunization programsEliseu Alves Waldman, Karin Regina Luhm, Sandra Aparecida Moreira Gomes Monteiro, et al.Clinical Case Reports|August 8, 2017
Why could a woman have three Trisomy 21 pregnancies? - a case reportMagda Magalhães, Cecília Marques, Fabiana Ramos, et al.Plos One|February 17, 2016
Peripheral Attentional Targets under Covert Attention Lead to Paradoxically Enhanced Alpha Desynchronization in Neurofibromatosis Type 1Gilberto Silva, Maria J Ribeiro, Gabriel N Costa, et al.Pageof 5