Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Item
http://www.wikidata.org/entity/Q34563748
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeProof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient.Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Probing the functional impact of sub-retinal prosthesis.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.Prevalence of generalized retinal dystrophy in Denmark.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaExpanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt CohortRelative frequency of inherited retinal dystrophies in BrazilA new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
P2860

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Item
http://www.wikidata.org/entity/Q34563748
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... nt of 21-year data management.
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Relative frequencies of inheri ...... ent of 21-year data management
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10.3109/09286586.2012.737890
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