Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

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http://www.wikidata.org/entity/Q35996537
Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingWhole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing LossMolecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome SequencingGene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.CDHR1 mutations in retinal dystrophies.Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families.Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
P2860

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

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http://www.wikidata.org/entity/Q35996537
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Whole Exome Sequencing Reveals ...... with Inherited Retinopathies.
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Whole Exome Sequencing Reveals ...... with Inherited Retinopathies.
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Whole Exome Sequencing Reveals ...... with Inherited Retinopathies.
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Whole Exome Sequencing Reveals ...... with Inherited Retinopathies.
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Whole Exome Sequencing Reveals ...... with Inherited Retinopathies.
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Whole Exome Sequencing Reveals ...... with Inherited Retinopathies.
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Whole Exome Sequencing Reveals ...... with Inherited Retinopathies.
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P2093
P2860
P2888
P304
P31
P356
P407
P478
P50
P577
P5875
P698
P921
P932