Margarida Venâncio

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

Neurodevelopmental disorders associated with dosage imbalance of <i>ZBTB20</i> correlate with the morbidity spectrum of ZBTB20 candidate target genes

Malene Bøgehus Rasmussen, Jakob V. Nielsen, Charles Marques Lourenço et al. · Journal of Medical Genetics · 2014 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS

Frederico S. Regateiro, Serkan Belkaya, Nélson Neves et al. · European Journal of Medical Genetics · 2017 · 26 citations

Medicine, Genetics, Molecular Genetics +15

Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity

Joana Serra Caetano, Cármen Costa, Jonathan Baets et al. · Pediatric Neurology · 2013 · 24 citations

Medicine, Neurology, Neuroscience +11

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

Isabel M. Carreira, Susana Isabel Ferreira, Eunice Matoso et al. · Molecular Cytogenetics · 2015 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17