Isabela M. P. O. Rizzo

Homozygosity Enhances Severity in Spinocerebellar Ataxia Type 3

Daniel R. Carvalho, Alessandra La Rocque-Ferreira, Isabela M. P. O. Rizzo et al. · Pediatric Neurology · 2008 · 51 citations

Life Sciences, Genetics, Molecular Genetics +14

Synergistic use of glycomics and single‐molecule molecular inversion probes for <scp>identification</scp> of congenital disorders of glycosylation type‐1

Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum et al. · Journal of Inherited Metabolic Disease · 2022 · 23 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Analysis of mutations in <i><scp>EXT</scp>1</i> and <i><scp>EXT</scp>2</i> in Brazilian patients with multiple osteochondromas

Savana Camilla Santos, Isabela M. P. O. Rizzo, Reinaldo Issao Takata et al. · Molecular Genetics & Genomic Medicine · 2018 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Macrophagic Myofasciitis in Childhood: The Role of Scanning Electron Microscopy/Energy-Dispersive Spectroscopy for Diagnosis

Ricardo K. Kalil, Altamir Monteiro, Maria Isabel Lima et al. · Ultrastructural Pathology · 2007 · 15 citations

Medicine, Pathology, Pediatrics +13

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

Kikue Terada Abe, Isabela M. P. O. Rizzo, Ana Luiza Coelho et al. · Clinical Case Reports · 2018 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13