Carlos Eduardo Steiner

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Deborah Krakow, Stephen P. Robertson, Lily King et al. · Nature Genetics · 2004 · 287 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Genetic Disorder +10

Gray and white matter imbalance – Typical structural abnormality underlying classic autism?

Leonardo Bonilha, Fernando Cendes, Chris Rorden et al. · Brain and Development · 2008 · 109 citations

Neurodevelopmental Disorders, Cognitive Science, Developmental Cognitive Neuroscience +11

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

Isabel Silveira, Íscia Lopes‐Cendes, Stephen J. Kish et al. · Neurology · 1996 · 105 citations

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

Genotypic and phenotypic analysis of 396 individuals with mutations in <i>Sonic Hedgehog</i>

Benjamin D. Solomon, Kelly Bear, Adrian Wyllie et al. · Journal of Medical Genetics · 2012 · 70 citations