Mariluce Riegel-Giugliani

13PUBLICATIONS
48CO-AUTHORS
Cell and nuclear divisionMedical bacteriologyGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Medical biochemistry - inorganic elements and compounds
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Publications (13)

|Aug 27, 2026
Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.

|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

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Frequent Collaborators

3 joint publications

Roberto Giugliani

3 joint publications

Thiago Corrêa

2 joint publications

Helena Froener Peruzzo

2 joint publications

Carolina Fischinger Moura de Souza