Raquel Boy

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 · 127 citations

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

A. C. M. Azevedo, IV Schwartz, Luciane Kalakun et al. · Clinical Genetics · 2004 · 115 citations

Arsb Activity, Immunohematology, Vasculitis +17

Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

Taiane Alves Vieira, Ida Vanessa Döederlein Schwartz, Verónica Muñoz et al. · American Journal of Medical Genetics Part A · 2008 · 85 citations

Mps Vii, Inherited Metabolic Disease, Pediatrics +8

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Cíntia Barros Santos-Rebouças, Raquel Boy, Evelyn Quintanilha Vianna et al. · Frontiers in Genetics · 2020 · 36 citations · Full text

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Chaofan Zhang, Angad Jolly, Brian J. Shayota et al. · Human Genetics and Genomics Advances · 2021 · 36 citations · Full text