Mutation Analysis of Patients with Hermansky-Pudlak Syndrome:

Forma Recessiva da Síndrome de Freeman-Shledon

Diploid/Triploid Mosaicism: Further Delineation of the Phenotype

Craniometaphyseal dysplasia

Ligneous Periodontitis in Ehlers-Danlos Syndrome

The De Lange syndrome in one of twins

Moderately Progressive Ullrich CongenitalMuscular Dystrophy (2011)

Chapter 1. Challenging issues in clinical genetics of Neurofibromatosis type 1
(Gerson Carakushansky, Mauri Carakushansky and Marcia Gonçalves Ribeiro) 
 - livro editado pela Editora NOVA SCIENCE PUBLISHERS 2011/2012