Volume 26; Issue 1

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Ophthalmic Genetics
Volume 26; Issue 1

Ophthalmic Genetics

Volume 26; Issue 1

1

Mitochondrial T9957C Mutation in Association with NAION and Seizures but not MELAS

Abu-Amero, Khaled K., Bosley, Thomas M., Bohlega, Saeed, Hansen, Erik

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 1.57 MB

english, 2005

2

Hereditary High Hypermetropia in the Faroe Islands

Fuchs, Josefine, Holm, Kári, Vilhelmsen, Kaj, Rosenberg, Thomas, Scherfig, Erik, Fledelius, Hans C.

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 117 KB

english, 2005

3

Multiple Congenital Malformations Including Severe Eye Anomalies and Abnormal Cerebellar Development with Dandy-Walker Malformation in a Girl with Partial Trisomy 3q

Moreira, Li´lia Maria de Azevedo, Neri, Fa´tima Bittencourt, Uzeˆda, Sheila de Quadros, Carvalho, Aca´cia Fernandes Lacerda de, Santana, Gustavo Costa, Souza, Fabiana Rocha, Rollemberg, Jose´ Cortes

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 2.12 MB

english, 2005

4

Novel Mutations in MYO7A and USH2A in Usher Syndrome

Maubaret, Cécilia, Griffoin, Jean-Michel, Arnaud, Bernard, Hamel, Christian P.

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

5

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter

Cohn, Amy C., Kearns, Lisa S., Savarirayan, Ravi, Ryan, Jacinta, Craig, Jamie E., Mackey, David A.

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 690 KB

english, 2005

6

List of Reviewers

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 26 KB

english, 2005

7

Penetrance and Phenotype of the Thr377Met Myocilin Mutation in a Large Finnish Family with Juvenile- and Adult-Onset Primary Open-Angle Glaucoma

Puska, Päivi, Lemmelä, Susanna, Kristo, Paula, Sankila, Eeva-Marja, Järvelä, Irma

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 133 KB

english, 2005

8

Molecular Genetic and Ocular Findings in Patients with Holt-Oram Syndrome

Gruenauer-Kloevekorn, Claudia, Reichel, Martin B., Duncker, G.I. W., Froster, Ursula G.

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 2.89 MB

english, 2005