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Ophthalmic Genetics, Volume 26 Issue 1 2005

Ophthalmic Genetics is moving!
ISSN: 1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency: 4 issues per year
Subjects: Genetics; Ophthalmology;
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Research Report
Molecular Genetic and Ocular Findings in Patients with Holt-Oram Syndrome
Claudia Gruenauer-Kloevekorn;  Martin B. Reichel;  G. I. W. Duncker; Ursula G. Froster
Pages 1 – 8
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Hereditary High Hypermetropia in the Faroe Islands
Josefine Fuchs;  Kári Holm;  Kaj Vilhelmsen;  Thomas Rosenberg;  Erik Scherfig; Hans C. Fledelius
Pages 9 – 15
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Penetrance and Phenotype of the Thr377Met Myocilin Mutation in a Large Finnish Family with Juvenile- and Adult-Onset Primary Open-Angle Glaucoma
Päivi Puska;  Susanna Lemmelä;  Paula Kristo;  Eeva-Marja Sankila; Irma Järvelä
Pages 17 – 23
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Mutation Report
Novel Mutations in MYO7A and USH2A in Usher Syndrome
Cécilia Maubaret;  Jean-Michel Griffoin;  Bernard Arnaud; Christian P. Hamel
Pages 25 – 29
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Case Report
Mitochondrial T9957C Mutation in Association with NAION and Seizures but not MELAS
Khaled K. Abu-Amero;  Thomas M. Bosley;  Saeed Bohlega; Erik Hansen
Pages 31 – 36
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Multiple Congenital Malformations Including Severe Eye Anomalies and Abnormal Cerebellar Development with Dandy-Walker Malformation in a Girl with Partial Trisomy 3q
Lília Maria de Azevedo Moreira;  Fátima Bittencourt Neri;  Sheila de Quadros Uz�da;  Acácia Fernandes Lacerda de Carvalho;  Gustavo Costa Santana;  Fabiana Rocha Souza; José Cortes Rollemberg
Pages 37 – 43
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Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter
Amy C. Cohn;  Lisa S. Kearns;  Ravi Savarirayan;  Jacinta Ryan;  Jamie E. Craig; David A. Mackey
Pages 45 – 53
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Original Articles
List of Reviewers
Pages 55 – 0
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