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Meeting Abstract (6)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (8)

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ARVO Annual Meeting Abstract (6)
Retina (2)

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Genetics (2)
Retina (2)
Eye Anatomy and Disorders (1)

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italian (2)
mutation (2)
phenotype (2)
family (1)
genes (1)
genetic pedigree (1)
genetics, molecular (1)
leber's amaurosis (1)
multicenter studies (1)
stargardt's disease (1)

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ARVO Annual Meeting Abstract June 2024

OcularID: Leveraging deep clinical phenotyping and multi-omics to identify novel targets for ocular diseases

Samuel Lessard; Merhdad Khajavi; Munender Vodnala; Pavitra Ramachandran; Michael Tsabar; Preeti Bais; Heming Xing; Mikhail Levit; Catherine O'Riordan; Katherine Klinger; Emanuele de Rinaldis; Franck Rapaport; Charles Fulco; Clement Chatelain; Suzanne B.R. Jacobs; Shameer Khader

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):659.

ARVO Annual Meeting Abstract May 2008

Clinical Phenotype of an Italian Case of Oculocutaneous Albinism Type 4 Caused by Novel Mutations in the Matp Gene

S. Rossi; F. Testa; V. Di Iorio; E. Surace; A. Gargiulo; M. Della Corte; E. Rinaldi; F. Simonelli

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):3125.

ARVO Annual Meeting Abstract May 2008

Autosomal Recessive Retinitis Pigmentosa Gene Analysis in Italian Patients

F. Simonelli; S. Rossi; F. Testa; V. Di Iorio; C. Ziviello; E. Rinaldi; S. Banfi

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):454.

Retina September 2007

Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients

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Francesca Simonelli; Carmela Ziviello; Francesco Testa; Settimio Rossi; Elisa Fazzi; Paolo Emilio Bianchi; Maurizio Fossarello; Sabrina Signorini; Chiara Bertone; Silvana Galantuomo; Francesco Brancati; Enza Maria Valente; Alfredo Ciccodicola; Ernesto Rinaldi; Alberto Auricchio; Sandro Banfi
TAGS: genes, genetics, molecular, italian, leber's amaurosis, multicenter studies, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2007; 48(9):4284-4290. https://doi.org/10.1167/iovs.07-0068

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ARVO Annual Meeting Abstract May 2007

Clinical Genetic Multicentric Study on Leber Congenital Amaurosis: New Insight on Diagnosis and Follow Up

F. Testa; S. Rossi; P. E. Bianchi; E. Fazzi; M. Fossarello; C. Ziviello; A. Auricchio; E. Rinaldi; F. Simonelli; S. Banfi

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1655.

ARVO Annual Meeting Abstract May 2007

Relation Between Macular Thickness and Central Visual Function in Patients Affected by Retinitis Pigmentosa: New Clinical Outcomes

M. R. Romano; F. Testa; S. Rossi; A. Nesti; V. Di Iorio; E. Maggio; P. Landolfo; E. Rinaldi; F. Simonelli

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):3740.

ARVO Annual Meeting Abstract May 2005

Molecular Genetics of Autosomal Dominant Retinitis Pigmentosa: A Multicentric Italian Study

A. Ciccodicola; C. Ziviello; M. Anastasi; B. Falsini; S.A. Tedesco; R. Brancato; C. Garre'; E. Rinaldi; S. Banfi; F. Simonelli

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1817.

Retina March 2000

New ABCR Mutations and Clinical Phenotype in Italian Patients with Stargardt Disease

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Francesca Simonelli; Francesco Testa; Giuseppe de Crecchio; Ernesto Rinaldi; Amy Hutchinson; Andrew Atkinson; Michael Dean; Michele D’Urso; Rando Allikmets
TAGS: italian, mutation, phenotype, stargardt's disease, family, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2000; 41(3):892-897.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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