<p>* Mutations in this gene can cause both syndromic and non-syndromic forms of RP or LCA</p><p><sup>#</sup> Mutations in this gene can cause RP as well as other retinal dystrophies</p><p>A summary of the functional annotation for RP/LCA driver genes.</p
Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Method...
Contains fulltext : 107849.pdf (publisher's version ) (Open Access)Mutations in th...
This study aimed to identify novel genetic loci and genes responsible for a number of inherited reti...
<p>Percentages refer to patients with mutations in the respective gene that are considered causative...
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various ...
Contains fulltext : 203178.pdf (publisher's version ) (Open Access)Purpose: To des...
The aim of this thesis was to identify and characterize genetic defects underlying retinal ciliopath...
Mutations in a large number of retinal and retinal pigment epithelium (RPE) expressed genes can lead...
Contains fulltext : 57334.pdf (publisher's version ) (Closed access)Mutations in t...
Contains fulltext : 47955.pdf (publisher's version ) (Closed access)LCA is a sever...
Contains fulltext : 19537__retidycab.pdf (publisher's version ) (Open Access)In th...
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and char...
Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known ...
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autos...
Contains fulltext : 87248.pdf (publisher's version ) (Open Access)Nonsyndromic rec...
Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Method...
Contains fulltext : 107849.pdf (publisher's version ) (Open Access)Mutations in th...
This study aimed to identify novel genetic loci and genes responsible for a number of inherited reti...
<p>Percentages refer to patients with mutations in the respective gene that are considered causative...
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various ...
Contains fulltext : 203178.pdf (publisher's version ) (Open Access)Purpose: To des...
The aim of this thesis was to identify and characterize genetic defects underlying retinal ciliopath...
Mutations in a large number of retinal and retinal pigment epithelium (RPE) expressed genes can lead...
Contains fulltext : 57334.pdf (publisher's version ) (Closed access)Mutations in t...
Contains fulltext : 47955.pdf (publisher's version ) (Closed access)LCA is a sever...
Contains fulltext : 19537__retidycab.pdf (publisher's version ) (Open Access)In th...
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and char...
Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known ...
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autos...
Contains fulltext : 87248.pdf (publisher's version ) (Open Access)Nonsyndromic rec...
Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Method...
Contains fulltext : 107849.pdf (publisher's version ) (Open Access)Mutations in th...
This study aimed to identify novel genetic loci and genes responsible for a number of inherited reti...