Ophthalmic Genetics,volume 34,issue 4  (12-2014)

Period of time： 2014年4期

Publisher： Informa Healthcare

Founded in： 1981

Total resources： 61

ISSN： 1381-6810

Subject： R77 Ophthalmology

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Ophthalmic Genetics,volume 34,issue 4

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Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

By Utz Virginia M.,Beight Craig D.,Marino Meghan J.,Hagstrom Stephanie A.,Traboulsi Elias I. in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 183-188

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Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma1

By Ottaviani Daniela,Parma Diana,Giliberto Florencia,Ferrer Marcela,Fandino Adriana,Davila Maria Teresa,Chantada Guillermo,Szijan Irene in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 189-198

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Raine Eye Health Study: Design, Methodology and Baseline Prevalence of Ophthalmic Disease in a Birth-cohort Study of Young Adults

By Yazar Seyhan,Forward Hannah,McKnight Charlotte M.,Tan Alex,Soloshenko Alla,Oates Sandra K.,Ang Wei,Sherwin Justin C.,Wood Diane,Mountain Jenny A.,Pennell Craig E.,Hewitt Alex W.,Mackey David A. in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 199-208

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Association of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients

By Abbas Radwa O.,Azzazy Hassan M. E. in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 209-216

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The Role of MMP2 (-1306C>T) and TIMP2 (-418 G>C) Promoter Variants in Age-related Macular Degeneration

By Ortak Huseyin,Demir Selim,Ateş Ömer,Benli İsmail,Söğüt Erkan,Sahin Mehmet in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 217-222

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Analysis of Catalase SNP rs1001179 in Saudi patients with Primary Open Angle Glaucoma

By Abu-Amero Khaled K.,Kondkar Altaf A.,Mousa Ahmed,Osman Essam A.,Al-Obeidan Saleh A. in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 223-228

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Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia

By Chi Jonathan Y.,MacDonald Ian M.,Hume Stacey in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 229-233

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Identification of a Novel LCA6 Mutation in an Emirati Family

By Fakhratova Malika in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 234-237

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Clinical Findings and Molecular Diagnosis of Retinoblastoma in Older Children

By Sheck Leo H. N.,Ng Yvonne S. P.,Watson Mike,Vincent Andrea L. in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 238-242

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Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion

By Chacón-Camacho Oscar,Arce-Gonzalez Rocio,Granillo-Alvarez Mariella,Flores-Limas Sanjuanita,Ramírez Magdalena,Zenteno Juan C. in (2013)

Ophthalmic Genetics,volume 34,issue 4 , Vol. 34, Iss. 4, 2013-12 , pp. 243-248

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