Maria Betânia Pereira Toralles

A clinical study of 77 patients with mucopolysaccharidosis type II

Ida Vanessa Döederlein Schwartz, Márcia Gonçalves Ribeiro, João Gustavo Fiani Bacila Mota et al. · Acta Paediatrica · 2007 · 134 citations

Medicine, Dermatology, Pathology +12

Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes

Raphael Machado Castilhos, Gabriel Vasata Furtado, Tailise Conte Gheno et al. · The Cerebellum · 2013 · 116 citations

Life Sciences, Genetics, Neurology +17

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

Edenir Inêz Palmero, Dirce Maria Carraro, Bárbara Alemar et al. · Scientific Reports · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Acácia Fernandes Lacerda de Carvalho, Fernanda T. Bellucco, Leslie Domenici Kulikowski et al. · Human Genetics · 2008 · 84 citations

Life Sciences, Genetics, Molecular Genetics +12

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2

Christine Hackel, Luiz Eduardo Chimello de Oliveira, Lúcio Fábio Caldas Ferraz et al. · Journal of Molecular Medicine · 2005 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17