European guidelines for constitutional cytogenomic analysis M Silva, N de Leeuw, K Mann, H Schuring-Blom, S Morgan, D Giardino, ... European Journal of Human Genetics 27 (1), 1-16, 2019 | 163 | 2019 |
Swyer syndrome and 46, XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome RA Veitia, M Nunes, L Quintana-Murci, R Rappaport, E Thibaud, ... The American Journal of Human Genetics 63 (3), 901-905, 1998 | 86 | 1998 |
Staphylococcus aureus resistente a meticilina adquirido en la comunidad aislados en tres hospitales de Lima-Perú J Tamariz, J Agapito, G Horna, E Tapia, W Vicente, M Silva, R Zerpa, ... Revista Medica Herediana 21 (1), 4-10, 2010 | 63 | 2010 |
Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia J Ferrão, M Silva, L Gonçalves, S Gomes, P Loureiro, A Coelho, ... Annals of Hematology 96, 1921-1929, 2017 | 17 | 2017 |
Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia M Nicolau, S Vargas, M Silva, A Coelho, E Ferreira, J Mendonça, L Vieira, ... Annals of hematology 98, 2673-2681, 2019 | 15 | 2019 |
Aerodynamic heating of missile/rocket-conceptual design phase G Duarte, M Silva, BM Castro Proceeding of COBEM 2009, 20th International Congress of Mechanical Engineering, 2009 | 12 | 2009 |
From stress to sick (le) and back again–oxidative/antioxidant mechanisms, genetic modulation, and cerebrovascular disease in children with sickle cell anemia M Silva, P Faustino Antioxidants 12 (11), 1977, 2023 | 11 | 2023 |
Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia M Silva, S Vargas, A Coelho, E Ferreira, J Mendonça, L Vieira, R Maia, ... Blood Cells, Molecules, and Diseases 83, 102436, 2020 | 10 | 2020 |
Screening for Y chromosome sequences in patients with Turner syndrome L Ferrão, ML Lopes, C Limbert, B Marques, F Boieiro, M Silva, R Marques, ... Acta Medica Portuguesa 15 (2), 89-100, 2002 | 8 | 2002 |
Hemorheological alterations in sickle cell anemia and their clinical consequences–the role of genetic modulators M Silva, S Vargas, A Coelho, A Dias, T Ferreira, A Morais, R Maia, ... Clinical Hemorheology and Microcirculation 64 (4), 859-866, 2017 | 7 | 2017 |
Costoclavicular brachial plexus block in paediatric anaesthesia: A retrospective pilot study F Carioca, M Silva, C Bispo, J Mafra, T Cenicante Journal of clinical anesthesia 69, 110113, 2021 | 6 | 2021 |
VCAM1, HMOX1 and NOS3 differential endothelial expression may impact sickle cell anemia vasculopathy M Silva, A Coelho, S Vargas, P Faustino Blood Cells, Molecules, and Diseases 93, 102639, 2022 | 5 | 2022 |
Trisomy 15 mosaicism: challenges in prenatal diagnosis M Silva, C Alves, S Pedro, B Marques, C Ferreira, J Furtado, AT Martins, ... American Journal of Medical Genetics Part A 167 (11), 2847-2850, 2015 | 5 | 2015 |
CIPE versão 2–Classificação Internacional para a Prática de Enfermagem A Silva, H Jesus, A Morais, M Silva, R Pinto, S Pereira, S Pedro Portugal: ordem dos enfermeiros, 2011 | 5 | 2011 |
Pesquisa de sequências do cromossoma Y em indivíduos com síndroma de Turner. L Ferrão, ML Lopes, C Limbert, B Marques, F Boieiro, M Silva, R Marques, ... Acta medica portuguesa 15 (2), 89-100, 2002 | 2 | 2002 |
Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia J Ferrão, M Silva, L Gonçalves, S Gomes, A Coelho, A Miranda, ... 20ª reunião anual da Sociedade Portuguesa de Genética Humana, 10-12 Novembro …, 2016 | 1 | 2016 |
Deleção intersticial 7q33q34 em fetos de gravidez gemelar monocoriónica diamniótica L Simão, B Marques, C Ferreira, S Serafim, C Alves, M Silva, M Viegas, ... Reunião Científica da Associação Portuguesa de Diagnóstico Pré-Natal, 29 …, 2023 | | 2023 |
Report of a rare 16q23. 1q23. 2 interstitial deletion in a girl with multiple anomalies L Simao, BS Marques, SS Serafim, AC Alves, SI Pedro, FT Brito, ... MEDICINE 101 (30), 2022 | | 2022 |
Small deletion in the CREBBP gene detected in a fetus with short long bones, abducted thumbs and nuchal edema S Serafim, B Marques, S Pedro, AR Tarelho, C Ferreira, L Simao, C Alves, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 336-337, 2022 | | 2022 |
Prenatal Diagnosis of Congenital Heart Disease IN A Fetus with A 8p23. 1 Interstitial Deletion L Simão, B Marques, S Serafim, A Alves, S Pedro, F Brito, C Ferreira, ... 24th Annual Meeting of the Portuguese Society of Human Genetics, 20 November …, 2021 | | 2021 |