Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7 - Wikidata - wikimedia - TriplyDB

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7

http://www.wikidata.org/entity/Q33930499

about

Update on the Kelch-like (KLHL) gene family Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).Long-term characterization of retinal degeneration in rd1 and rd10 mice using spectral domain optical coherence tomography Normative reference ranges for the retinal nerve fiber layer, macula, and retinal layer thicknesses in children Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis.

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Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7

http://www.wikidata.org/entity/Q33930499

description

2011 nî lūn-bûn

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2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Phenotypic characterization of ...... tosa due to mutations in KLHL7

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Phenotypic characterization of ...... tosa due to mutations in KLHL7

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Phenotypic characterization of ...... tosa due to mutations in KLHL7

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Phenotypic characterization of ...... tosa due to mutations in KLHL7

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Phenotypic characterization of ...... tosa due to mutations in KLHL7

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Phenotypic characterization of ...... tosa due to mutations in KLHL7

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ARCHOPHTHALMOL.2011.307

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JAMA Ophthalmology

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Phenotypic characterization of ...... tosa due to mutations in KLHL7

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P2093

David G Birch

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Dianna K Hughbanks-Wheaton

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Joseph W Ray

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Kirsten G Locke

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Lori S Sullivan

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Martin Klein

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Sara J Bowne

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Yuquan Wen

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P2860

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa

Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography.

Macular atrophy in birdshot retinochoroidopathy: an optical coherence tomography and multifocal electroretinography analysis

Rod photoreceptor temporal properties in retinitis pigmentosa.

Assessing abnormal rod photoreceptor activity with the a-wave of the electroretinogram: applications and methods.

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations.

A computerized method of visual acuity testing: adaptation of the early treatment of diabetic retinopathy study testing protocol.

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1475-1482

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scholarly article

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10.1001/ARCHOPHTHALMOL.2011.307

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11

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129

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Stephen P. Daiger

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2011-11-01T00:00:00Z

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22084217

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4106140

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