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Volume 30; Issue 1
Main
Ophthalmic Genetics
Volume 30; Issue 1
Ophthalmic Genetics
Volume 30; Issue 1
1
Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)
Hugosson, Therése
,
Gränse, Lotta
,
Ponjavic, Vesna
,
Andréasson, Sten
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 9.40 MB
Your tags:
english, 2009
2
Lack of Association Between Optineurin Gene Variants T34T, E50K, M98K, 691_692insAG and R545Q and Primary Open Angle Glaucoma in Brazilian Patients
Caixeta-Umbelino, Cristiano
,
de Vasconcellos, José Paulo Cabral
,
Costa, Vital Paulino
,
Kasahara, Niro
,
Paolera, Maurício Della
,
de Almeida, Geraldo Vicente
,
Cohen, Ralph
,
Mandia, Carmo
,
Rocha, Mylene
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 120 KB
Your tags:
english, 2009
3
Cystoid Macular Edema in a Patient with Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy
Brubaker, Jacob W.
,
Mohney, Brian G.
,
Pulido, Jose S.
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 1.76 MB
Your tags:
english, 2009
4
The Effect of Therapy Refusal Against Medical Advice in Retinoblastoma Patients in a Setting Where Treatment Delays are Common
Sitorus, Rita S.
,
Moll, Annette C.
,
Suhardjono, Setiowati
,
Simangunsong, Lumongga S.
,
Riono, Pandu
,
Imhof, Saskia
,
Völker-Dieben, H. J. M.
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2009
5
Duane Retraction Syndrome, Nystagmus, Retinal Pigment Epitheliopathy and Epiretinal Membrane with Micro- and Pachygyria, Developmental Delay, Hearing Loss and Craniopharyngioma
D'Amelio, Savino
,
Lassen, Natalie
,
Vasiliou, Vasilis
,
Bateman, J. Bronwyn
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 4.07 MB
Your tags:
english, 2009
6
Congenital Alacrima in a Patient with Blepharophimosis Syndrome
Athappilly, Geetha K.
,
Braverman, Rebecca Sands
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 708 KB
Your tags:
english, 2009
7
Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees
Robitaille, Johane M.
,
Wallace, Karin
,
Zheng, Binyou
,
Beis, M. Jill
,
Samuels, Mark
,
Hoskin-Mott, Ann
,
Guernsey, Duane L.
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 3.15 MB
Your tags:
english, 2009
8
Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in the AAAS Gene
Villanueva-Mendoza, Cristina
,
Martínez-Guzmán, Oswaldo
,
Rivera-Parra, David
,
Zenteno, Juan Carlos
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 1.33 MB
Your tags:
english, 2009
9
LCA5 , a Rare Genetic Cause of Leber Congenital Amaurosis in Koreans
Seong, Moon-Woo
,
Kim, Seong Yeon
,
Yu, Young Suk
,
Hwang, Jeong-Min
,
Kim, Ji Yeon
,
Park, Sung Sup
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 120 KB
Your tags:
english, 2009
10
Uncommon Associations with Ataxia-Telangiectasia: Vitiligo and Optic Disc Drusen
Sari, Ayça
,
Okuyaz, Çetin
,
Adiguzel, Ufuk
,
Ateş, Nurcan Aras
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 819 KB
Your tags:
english, 2009
11
Published International Classification of Retinoblastoma (ICRB) Definitions Contain Inconsistencies—An Analysis of Impact
Novetsky, Danielle E.
,
Abramson, David H.
,
Kim, Jonathan W.
,
Dunkel, Ira J.
Journal:
Ophthalmic Genetics
Year:
2009
Language:
english
File:
PDF, 146 KB
Your tags:
english, 2009
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