Concepedia
Statistics
Publications
10
Citations
400
H-Index
Active since
2008
Affiliations
University of Coimbra(Current)
Hospitais da Universidade de Coimbra
University of Amsterdam
University College London
Amsterdam UMC Location University of Amsterdam
Fabiana Ramos is an author at University of Coimbra specializing in medicine, neuroscience, and neurofibromatosis type 1.
Publications per year
2008–2017
Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
Ana Beleza‐Meireles, Rachel Hart, Jill Clayton‐Smith et al. · European Journal of Medical Genetics · 2015 · 109 citations
Medicine, Ophthalmology, Clinical Anatomy +4
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Anna Thomas, Hywel Williams, Núria Setó‐Salvia et al. · The American Journal of Human Genetics · 2014 · 100 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Abnormal Brain Activation in Neurofibromatosis Type 1: A Link between Visual Processing and the Default Mode Network
Inês R. Violante, Maria José Ribeiro, Gil Cunha et al. · PLoS ONE · 2012 · 49 citations · Full text
Medicine, Neurology, Neuroscience +17
Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficits
Maria José Ribeiro, Otília C. d’Almeida, Fabiana Ramos et al. · Journal of Neurodevelopmental Disorders · 2014 · 30 citations · Full text
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes
Paula Paulo, Pedro Pinto, Ana Peixoto et al. · Journal of Molecular Diagnostics · 2017 · 24 citations
Medicine, Genetics, Molecular Genetics +16
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