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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

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Publications (12)

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|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

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Frequent Collaborators

3 joint publications

Roberto Giugliani

3 joint publications

Thiago Corrêa

2 joint publications

Carlos Eduardo Steiner

2 joint publications

Chong Ae Kim

2 joint publications

Guilherme Baldo

2 joint publications

Erlane Marques Ribeiro

2 joint publications

Fabiano de Oliveira Poswar

2 joint publications

Carolina Fischinger Moura de Souza

2 joint publications

Yorran Hardman Araújo Montenegro

1 joint publications

Taiane Alves Vieira

Frequent Collaborators

3 joint publications

Roberto Giugliani

3 joint publications

Thiago Corrêa

2 joint publications

Carlos Eduardo Steiner

2 joint publications

Chong Ae Kim

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