Mariluce Riegel-Giugliani

12PUBLICATIONS
46CO-AUTHORS
Medical bacteriologyGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Medical biochemistry - inorganic elements and compoundsNeurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (12)

|Jan 27, 2026
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Yorran Hardman Araújo Montenegro, Maria Fernanda Antero Alves, Simone Silva Dos Santos-Lopes

|Jun 12, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro

|Jul 27, 2024
invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

Rafaella Mergener, Marcela Rodrigues Nunes, Ana Kalise Böttcher

|Jun 26, 2024
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Patricia C Mazzonetto, Darine Villela, Ana C V Krepischi

|Mar 15, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp

|Apr 30, 2021
Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

Thiago Corrêa, Cíntia B Santos-Rebouças, Maytza Mayndra

Pageof 2

Frequent Collaborators

3 joint publications

Roberto Giugliani

3 joint publications

Thiago Corrêa

2 joint publications

Carlos Eduardo Steiner

2 joint publications

Chong Ae Kim