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List of works by Fernanda Porto

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

scientific article published on 31 August 2020

Herpes zoster optic neuritis

scientific article published on 28 May 2011

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

scientific article

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

scientific article

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

scientific article published on 29 November 2017

Ocular manifestations in the inherited DNA repair disorders.

scientific article

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

scientific article published on 24 December 2019

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

scientific article

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