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Volume 24 Issue 2
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Ophthalmic Genetics
, Volume
24
Issue 2 2003
ISSN:
1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency:
4 issues per year
Subjects:
Genetics
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Ophthalmology
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Publisher:
Informa Healthcare
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Duke University honors Gordon Klintworth
Pages 67 – 73
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The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review
Robert K. Koenekoop
Pages 75 – 80
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Ophthalmic manifestations of congenital disorder of glycosylation type 1a
Hanne Jensen; Susanne Kjaergaard; Flemming Klie; H. U. Moller
Pages 81 – 88
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Phenotype in two families with RP3 associated with RPGR mutations
Birgit Lorenz; Monika Andrassi; Ulf Kretschmann
Pages 89 – 101
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Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls
Mattias Jansson; Towa Marknell; Lidija Tomic; Lill-Inger Larsson; Claes Wadelius
Pages 103 – 110
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A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy
Thomas K. M. Lee; Marc Hébert; Ian M. MacDonald
Pages 111 – 116
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Congenital cystic eye: recurrence after initial surgical removal
Richard M. Robb; Douglas C. Anthony
Pages 117 – 123
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Abnormal retinal architecture in a 33-week-old fetus with LCA and a homozygous C330Y mutation in RPE65
Robert K. Koenekoop
Pages 125 – 126
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The major gene for Bardet-Biedl syndrome is BBS1
Robert K. Koenekoop
Page 127
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