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Works (8)

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

Human mutation
2017-11 | Journal article
Source: Self-asserted source
Fernanda Porto via Europe PubMed Central

Herpes zoster optic neuritis

International Ophthalmology
2011 | Journal article
EID:

2-s2.0-79959730665

Contributors: De Mello Vitor, B.; Foureaux, E.C.M.; Porto, F.B.O.
Source: Self-asserted source
Fernanda Porto via Scopus - Elsevier

Ocular manifestations in the inherited DNA repair disorders

Survey of Ophthalmology
2003 | Journal article
EID:

2-s2.0-0037253076

Contributors: Dollfus, H.; Porto, F.; Caussade, P.; Speeg-Schatz, C.; Sahel, J.; Grosshans, E.; Flament, J.; Sarasin, A.
Source: Self-asserted source
Fernanda Porto via Scopus - Elsevier

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

Advances in experimental medicine and biology
2003 | Journal article
Source: Self-asserted source
Fernanda Porto via Europe PubMed Central

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis: (LCA1 and 2)

Advances in Experimental Medicine and Biology
2003 | Book
EID:

2-s2.0-0348162576

Contributors: Porto, F.B.O.; Perrault, I.; Hicks, D.; Rozet, J.-M.; Hanoteau, N.; Hanein, S.; Kaplan, J.; Sahel, J.A.
Source: Self-asserted source
Fernanda Porto via Scopus - Elsevier

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)

Journal of Gene Medicine
2002 | Journal article
EID:

2-s2.0-0036632603

Contributors: Porto, F.B.O.; Perrault, I.; Hicks, D.; Rozet, J.-M.; Hanoteau, N.; Hanein, S.; Kaplan, J.; Sahel, J.A.
Source: Self-asserted source
Fernanda Porto via Scopus - Elsevier

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

American Journal of Ophthalmology
2001 | Journal article
EID:

2-s2.0-0035209570

Contributors: Porto, F.B.O.; Mack, G.; Sterboul, M.-J.; Lewin, P.; Flament, J.; Sahel, J.; Dollfus, H.
Source: Self-asserted source
Fernanda Porto via Scopus - Elsevier

Rod-cone interactions: Developmental and clinical significance

Progress in Retinal and Eye Research
2001 | Journal article
EID:

2-s2.0-0034993535

Contributors: Mohand-Said, S.; Hicks, D.; LĂ©veillard, T.; Picaud, S.; Porto, F.; Sahel, J.A.
Source: Self-asserted source
Fernanda Porto via Scopus - Elsevier