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Volume 34; Issue 4
Main
Ophthalmic Genetics
Volume 34; Issue 4
Ophthalmic Genetics
Volume 34; Issue 4
1
Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma 1
Ottaviani, Daniela
,
Parma, Diana
,
Giliberto, Florencia
,
Ferrer, Marcela
,
Fandino, Adriana
,
Davila, Maria Teresa
,
Chantada, Guillermo
,
Szijan, Irene
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 355 KB
Your tags:
english, 2013
2
Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion
Chacón-Camacho, Oscar
,
Arce-Gonzalez, Rocio
,
Granillo-Alvarez, Mariella
,
Flores-Limas, Sanjuanita
,
Ramírez, Magdalena
,
Zenteno, Juan C.
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 417 KB
Your tags:
english, 2013
3
The Role of MMP2 ( -1306C>T ) and TIMP2 (- 418 G>C ) Promoter Variants in Age-related Macular Degeneration
Ortak, Huseyin
,
Demir, Selim
,
Ateş, Ömer
,
Benli, İsmail
,
Söğüt, Erkan
,
Sahin, Mehmet
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2013
4
Association of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients
Abbas, Radwa O.
,
Azzazy, Hassan M. E.
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 155 KB
Your tags:
english, 2013
5
Identification of a Novel LCA6 Mutation in an Emirati Family
Fakhratova, Malika
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 361 KB
Your tags:
english, 2013
6
Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder
de Crecchio, Giuseppe
,
Cennamo, Gilda
,
de Leeuw, Nicole
,
Ventruto, Maria Luisa
,
Lonardo, Maria Concetta
,
Friso, Patrizia
,
Ventruto, Valerio
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 763 KB
Your tags:
english, 2013
7
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
Utz, Virginia M.
,
Beight, Craig D.
,
Marino, Meghan J.
,
Hagstrom, Stephanie A.
,
Traboulsi, Elias I.
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 981 KB
Your tags:
english, 2013
8
Ophthalmologic Observations in a Patient with Partial Mosaic Trisomy 8
Abu-Amero, Khaled K.
,
Kondkar, Altaf A.
,
Salih, Mustafa A.
,
Al-Husain, Muneera
,
Al Shammari, Muneera
,
Zeidan, Ghassan
,
Oystreck, Darren T.
,
Hellani, Ali M.
,
Kentab, Amal Y.
,
Bosley, Thomas M.
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 866 KB
Your tags:
english, 2013
9
Raine Eye Health Study: Design, Methodology and Baseline Prevalence of Ophthalmic Disease in a Birth-cohort Study of Young Adults
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.
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 348 KB
Your tags:
english, 2013
10
Clinical Findings and Molecular Diagnosis of Retinoblastoma in Older Children
Sheck, Leo H. N.
,
Ng, Yvonne S. P.
,
Watson, Mike
,
Vincent, Andrea L.
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 1021 KB
Your tags:
english, 2013
11
Analysis of Catalase SNP rs1001179 in Saudi patients with Primary Open Angle Glaucoma
Abu-Amero, Khaled K.
,
Kondkar, Altaf A.
,
Mousa, Ahmed
,
Osman, Essam A.
,
Al-Obeidan, Saleh A.
Journal:
Ophthalmic Genetics
Year:
2013
Language:
english
File:
PDF, 132 KB
Your tags:
english, 2013
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