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- 2019
-
Mark
Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis
(
- Contribution to journal › Letter
- 2014
-
Mark
Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.
(
- Contribution to journal › Article
- 2011
-
Mark
Ubiquitin Carboxyl-Terminal Esterase L1 (UCHL1) S18Y Polymorphism In Patients With Cataracts
(
- Contribution to journal › Article
-
Mark
Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome.
(
- Contribution to journal › Article
-
Mark
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
(
- Contribution to journal › Article
-
Mark
Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in the BEST1 Gene and Best Vitelliform Macular Dystrophy.
(
- Contribution to journal › Article
- 2010
-
Mark
Long-term 12 year follow-up of X-linked congenital retinoschisis.
(
- Contribution to journal › Article
- 2009
-
Mark
Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)
(
- Contribution to journal › Article
- 2006
-
Mark
Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in VMD2.
(
- Contribution to journal › Article
- 2005
-
Mark
Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
(
- Contribution to journal › Article