Elsa Bevivino

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Andrea Finocchi, Giulia Angelino, Nicoletta Cantarutti et al. · American Journal of Medical Genetics Part A · 2011 · 63 citations · Full text

<i>LYRM7</i>mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Cristina Dallabona, Truus E. M. Abbink, Rosalba Carrozzo et al. · Brain · 2016 · 62 citations · Full text

Understanding pyrroline‐5‐carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure‐based analysis, and novel therapy with arginine

Diego Martinelli, Johannes Häberle, Vicente Rubio et al. · Journal of Inherited Metabolic Disease · 2011 · 59 citations

Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease

Pietro Sirleto, Cecilia Surace, Helena G. Dos Santos et al. · Pediatric Research · 2009 · 23 citations · Full text

Rare Female, Menkes Disease, Genetics +6

Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease

Carlo Cosimo Quattrocchi, Daniela Longo, Elsa Bevivino et al. · Journal of Neuroimaging · 2010 · 22 citations

Urology, Mendelian Disorder, Menkes Disease +12