Fabiano Poswar

13PUBLICATIONS
114CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Medical biochemistry - inorganic elements and compoundsMedical bacteriologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (13)

|Aug 29, 2026
Clinical and Genetic Spectrum of ATP1A3-Related Disorders: A Multicenter Cross-Sectional Study.

|Aug 25, 2026
Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

|Apr 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype.

Graeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo

|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

|Mar 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Stefan Groeneweg, Ferdy S van Geest, Mariano Martín

|Apr 09, 2024
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.

Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar

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Frequent Collaborators

5 joint publications

Francyne Kubaski

4 joint publications

Filippo Vairo

4 joint publications

Roberto Giugliani

3 joint publications

Carolina Fischinger Moura de Souza