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Ophthalmic Genetics, Volume 30 Issue 2 2009

Ophthalmic Genetics is moving!
Official Journal of the International Society for Genetic Eye Disease and Retinoblastoma
ISSN: 1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency: 4 issues per year
Subjects: Genetics; Ophthalmology;
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Reviews
RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy
Xue Cai;  Shannon M. Conley; Muna I. Naash
Pages 57 – 62
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Natural History of Phenotypic Changes in Stargardt Macular Dystrophy
Saloni Walia; Gerald A. Fishman
Pages 63 – 68
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Flecked-Retina Syndromes
Saloni Walia;  Gerald A. Fishman; Rashmi Kapur
Pages 69 – 75
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Research Reports
PRPF31 Alternative Splicing and Expression in Human Retina
Goranka Tanackovic; Carlo Rivolta
Pages 76 – 83
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Quantitative Analysis of Tumor Size in a Murine Model of Retinoblastoma
Helen Dimaras;  Mellone N. Marchong; Brenda L. Gallie
Pages 84 – 90
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Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata
Maree P. Flaherty;  Chandra Balachandran;  Robyn Jamieson; Elizabeth C. Engle
Pages 91 – 95
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Mutation Reports
Mutations in TOPORS: A Rare Cause of Autosomal Dominant Retinitis Pigmentosa in Continental Europe?
Claudia Schob;  Ulrike Orth;  Andreas Gal;  Stefan Kindler;  Christina F. Chakarova;  Shomi S. Bhattacharya; Klaus Rüther
Pages 96 – 98
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A Novel NDP Mutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy
Elisabeth P. Aponte;  Jose S. Pulido;  Jay W. Ellison;  Polly A. Quiram; Brian G. Mohney
Pages 99 – 102
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Case Reports
Ophthalmic Features in a Dysmorphic Boy with Chromosome 4q Deletion and Duplication
Fulvio Parentin;  Antonella Fabretto;  Daniela Gambel Benussi;  Vincenzo Petix;  Federico Marchetti;  Leda Dalprà;  Serena Redaelli;  Stefano Pensiero; Vanna Pecile
Pages 103 – 105
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Coats' Disease, Megalopapilla and Cornelia De Lange Syndrome
Mark R. Barakat;  Elias I. Traboulsi; Jonathan E. Sears
Pages 106 – 108
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