Volume 30; Issue 4

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Ophthalmic Genetics
Volume 30; Issue 4

Ophthalmic Genetics

Volume 30; Issue 4

1

Characterization of CTNS mutations in Arab patients with Cystinosis

Aldahmesh, Mohammed A., Humeidan, Amal, Almojalli, Hamad A., Khan, Arif O., Rajab, Mohammed, AL-Abbad, Abbas A., F. Meyer, Brian, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 1.19 MB

english, 2009

2

Autofluorescence and Infrared Retinal Imaging in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis

Kelly, John P., Weiss, Avery H., Rowell, Gus, Seigel, Gail M.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 1.09 MB

english, 2009

3

Erratum

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 476 KB

english, 2009

4

Subclinical optic neuropathy in Fabry disease

Pitz, Susanne, Grube-Einwald, Kathrin, Renieri, Giulia, Reinke, Jörg

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 821 KB

english, 2009

5

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus

Khan, Arif O., Khalil, Dania S., Al-Sharif, Latifa J., Al-Tassan, Nada A.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 493 KB

english, 2009

6

Microcephaly with chorioretinal dysplasia: Two case reports and a review of the literature

Gupta, Abha, Vasudevan, P., Biswas, S., Smith, J. Clayton, Moore, Anthony T., Lloyd, Chris, Dutton, G.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 826 KB

english, 2009

7

Diagnosis of Retinoblastoma: How good are referring physicians?

Maki, Jesse L., Marr, Brian P., Abramson, David H.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 790 KB

english, 2009

8

Retinal pathology of a patient with Goldmann-Favre Syndrome

Bonilha, Vera L., Fishman, Gerald A., Rayborn, Mary E., Hollyfield, Joe G.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 1.45 MB

english, 2009

9

Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population

Asleh, Saleh Abu, Lederman, Michal, Weinstein, Orly, Horowitz, Smadar, Meir, Tal, Lahad, Amnon, Goldstein, Nurit, Sharon, Dror, Israel, Shoshana, Chowers, Itay

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 517 KB

english, 2009

10

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita

Johnson, Charles A., Hatfield, Mark, Pulido, Jose S.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 801 KB

english, 2009