Author Search Results

161

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

by Kessler,Rejane G.

Published 2008

Other Authors: “...Giugliani,Roberto...”
Access document

Article

162

Genomic rearrangements in BRCA1 and BRCA2: a literature review

by Ewald,Ingrid Petroni

Published 2009

Other Authors: “...Giugliani,Roberto...”
Access document

Article

163

Population analysis of the GLB1 gene in South Brazil

by Baiotto,Cléia

Published 2011

Other Authors: “...Giugliani,Roberto...”
Access document

Article

164

RELAGH - the challenge of having a scientific network in Latin America: an account from the presidents

by Rojas-Martínez,Augusto

Published 2014

Other Authors: “...Giugliani,Roberto...”
Access document

Article

165

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

by Camargo Neto,Eurico

Published 2018

Other Authors: “...Giugliani,Roberto...”
Access document

Article

166

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

by Sebastião,Fernanda Medeiros

Published 2022

Other Authors: “...Giugliani,Roberto...”
Access document

Article

167

Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II

by Pinto,Louise L. C.

Published 2006

Other Authors: “...Giugliani,Roberto...”
Access document

Article

168

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça

by Cardoso-Santos,Antonio

Published 2008

Other Authors: “...Giugliani,Roberto...”
Access document

Article

169

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

by Mattos,Beatriz Piva e

Published 2016

Other Authors: “...Giugliani,Roberto...”
Access document

Article

170

Polymorphic variation of mononucleotide microsatellites in healthy humans and its implication for microsatellite instability screening

by Cossio,Silvia Liliana

Published 2007

Other Authors: “...Giugliani,Roberto...”
Access document

Article

171

Investigation of the role of C26 : 0-Lysophosphatidylcholine in the oxidative stress induction in x-linked adrenoleukodystrophy

by Ribas, Graziela de Oliveira Schmitt

Published 2019

Other Authors: “...Giugliani, Roberto...”
Access document

Conference object

172

Síndrome de Down : características clínicas, perfil epidemiológico e citogenético em recém-nascidos no Hospital de Clínicas de Porto Alegre

by Lima, Guilherme Bender

Published 1996

Other Authors: “...Giugliani, Roberto...”
Access document

Article

173

Efeito do tratamento com losartana na estrutura e expressão gênica de TGF-B na aorta de camundongos com mucopolissacaridoses tipo I

by Gonzalez, Esteban Alberto

Published 2023

Other Authors: “...Giugliani, Roberto...”
Access document

Conference object

174

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective

by Felix, Temis Maria

Published 2023

Other Authors: “...Giugliani, Roberto...”
Access document

Article

175

Levantamento de casos alterados da triagem neonatal por espectrometria de massas em tandem confirmados através de técnicas moleculares

by Brasil, Carolina Serpa

Published 2021

Other Authors: “...Giugliani, Roberto...”
Access document

Conference object

176

The inflammation in the cytopathology of patients with mucopolysaccharidoses : immunomodulatory drugs as an approach to therapy

by Wiesinger, Anna-Maria

Published 2022

Other Authors: “...Giugliani, Roberto...”
Access document

Article

177

Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications in neonatal screening and diagnostic confirmation of lysosomal...

by Netto, Alice Brinckmann Oliveira

Published 2022

Other Authors: “...Giugliani, Roberto...”
Access document

Article

178

Clinical profile among brazilian Mucopolysaccharidosis type II patients : subgroup analysis from the Hunter Outcome Survey

by Horovitz, Dafne Dain Gandelman

Published 2023

Other Authors: “...Giugliani, Roberto...”
Access document

Article

179

Avaliação da qualidade e eficiência do DNA extraído de sangue impregnado em papel filtro para uso no diagnóstico molecular de doenças lisossômicas

by Málaga, Diana Elizabeth Rojas

Published 2017

Other Authors: “...Giugliani, Roberto...”
Access document

Conference object

180

Diagnostic and treatment strategies in mucopolysaccharidosis VI

by Vairo, Filippo Pinto e

Published 2015

Other Authors: “...Giugliani, Roberto...”
Access document

Article