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Volume 32; Issue 4
Main
Ophthalmic Genetics
Volume 32; Issue 4
Ophthalmic Genetics
Volume 32; Issue 4
1
Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in the BEST1 Gene and Best Vitelliform Macular Dystrophy
Wittström, Elisabeth
,
Ponjavic, Vesna
,
Bondeson, Marie-Louise
,
Andréasson, Sten
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 955 KB
Your tags:
english, 2011
2
Retinoblastoma: Lessons and challenges from developing countries. Ellsworth Lecture 2011
Chantada, Guillermo L.
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 790 KB
Your tags:
english, 2011
3
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype
Aliferis, Konstantinos
,
Stoetzel, Corinne
,
Pelletier, Valérie
,
Hellé, Sophie
,
Angioï-Duprez, Karine
,
Vigneron, Jacqueline
,
Leheup, Bruno
,
Marion, Vincent
,
Dollfus, Hélène
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 763 KB
Your tags:
english, 2011
4
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL
Faletra, Flavio
,
Athanasakis, Emmanouil
,
Minen, Federico
,
Fornasier, Federico
,
Marchetti, Federico
,
Gasparini, Paolo
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 589 KB
Your tags:
english, 2011
5
Screening for vigabatrin (Sabril ® ) retinal toxicity in children
Brodie, Scott E.
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 535 KB
Your tags:
english, 2011
6
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations
Abu-Amero, Khaled K.
,
Faletra, Flavio
,
Gasparini, Paolo
,
Parentin, Fulvio
,
Pensiero, Stefano
,
Alorainy, Ibrahim A.
,
Hellani, Ali M.
,
Catalano, Dario
,
Bosley, Thomas M.
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 723 KB
Your tags:
english, 2011
7
Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3
Abu-Amero, Khaled K.
,
Kapoor, Seema
,
Hellani, Ali
,
Monga, Sumit
,
Bosley, Thomas M.
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2011
8
Proteasome modulator 9 gene is linked to diabetic and non-diabetic retinopathy in T2D
Gragnoli, Claudia
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 508 KB
Your tags:
english, 2011
9
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome
Akoury, Elie
,
El Zir, Elie
,
Mansour, Ahmad
,
Mégarbané, André
,
Majewski, Jacek
,
Slim, Rima
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 665 KB
Your tags:
english, 2011
10
Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins
Keilhauer, Claudia N.
,
Fritsche, Lars G.
,
Weber, Bernhard H. F.
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 828 KB
Your tags:
english, 2011
11
Strabismus, refractive errors and nystagmus in children and young adults with Down syndrome
Ljubic, Antonela
,
Trajkovski, Vladimir
,
Stankovic, Branislav
Journal:
Ophthalmic Genetics
Year:
2011
Language:
english
File:
PDF, 666 KB
Your tags:
english, 2011
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