Fabiana Louise Motta
11PUBLICATIONS
23CO-AUTHORS
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Publications (11)
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|Jan 25, 2025
Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.Olivia A Zin, Luiza M Neves, Fabiana L Motta
|Aug 12, 2023
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.Olivia A Zin, Luiza M Neves, Daniela P Cunha
|Jun 28, 2023
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.Rebeca A S Amaral, Fabiana L Motta, Olivia A Zin
|Aug 24, 2021
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.Malena Daich Varela, Fabiana Louise Motta, Andrew R Webster
|Aug 06, 2021
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.Olivia A Zin, Luiza M Neves, Fabiana L Motta
|Jun 23, 2021
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.Fabiana Louise Motta, Rafael Filippelli-Silva, Joao Paulo Kitajima
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Frequent Collaborators
8 joint publications
Juliana Maria Ferraz Sallum
3 joint publications
Zilton F M Vasconcelos
3 joint publications
Olivia A Zin
2 joint publications
Fernanda Belga Ottoni Porto
2 joint publications
Luiza M Neves
2 joint publications
Mariana Matioli Da Palma
1 joint publications
Rui Chen
1 joint publications
Elizabeth S Wohler
1 joint publications
Leonardo H F Gomes
1 joint publications
Rebeca A S Amaral
