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- 2010
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Mark
Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
(
- Contribution to journal › Article
- 2009
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Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article
- 2005
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Mark
Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
(
- Contribution to journal › Article
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Mark
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
(
- Contribution to journal › Article
- 2003
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Mark
Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).
(
- Contribution to journal › Article
- 2001
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Mark
Electrophysiologic findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene
(
- Contribution to journal › Article
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Mark
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)
(
- Contribution to journal › Article
- 1999
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Mark
Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa
(
- Contribution to journal › Article
- 1998
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Mark
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration
(
- Contribution to journal › Article
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Mark
Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype
(
- Contribution to journal › Article