(Q38047615)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Current mutation discovery approaches in Retinitis Pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1

1 reference

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9 March 2020

Cristina Irigoyen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Adolfo López de Munain

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Javier Ruiz-Ederra

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

author name string

Olatz Barandika

3

1 reference

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9 March 2020

publication date

27 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

page(s)

117-129

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23022136%20AND%20SRC:MED&resulttype=core&format=json

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

9 March 2020

cites work

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Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

7 January 2021

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AAV-mediated gene replacement, either alone or in combination with physical and pharmacological agents, results in partial and transient protection from photoreceptor degeneration associated with betaPDE deficiency

7 January 2021

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Implications of gene copy-number variation in health and diseases.

7 January 2021

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Rapid and cost-effective screening of newly identified microsatellite loci by high-resolution melting analysis.

7 January 2021

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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

7 January 2021

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Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

7 January 2021

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Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

7 January 2021

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Use of the Argus II retinal prosthesis to improve visual guidance of fine hand movements

7 January 2021

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High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling.

7 January 2021

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High-throughput DNA methylation profiling using universal bead arrays

7 January 2021

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

7 January 2021

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Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing

7 January 2021

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First application of MLPA method in severe von Willebrand disease. Confirmation of a new large VWF gene deletion and identification of heterozygous carriers

7 January 2021

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High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

7 January 2021

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Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability

7 January 2021

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BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families

7 January 2021

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Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking

7 January 2021

1 reference

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Multiplex quantitative foodborne pathogen detection using high resolution CE-SSCP coupled stuffer-free multiplex ligation-dependent probe amplification

7 January 2021

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Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa

7 January 2021

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Perspective on genes and mutations causing retinitis pigmentosa

7 January 2021

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Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification

7 January 2021

1 reference

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Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Early Onset Retinal Dystrophy Due to Mutations inLRAT: Molecular Analysis and Detailed Phenotypic Study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Current gene discovery strategies for ocular conditions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

High resolution melting analysis for gene scanning

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Retinitis pigmentosa: genes and disease mechanisms.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Applications of ultra-high-throughput sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Field guide to next-generation DNA sequencers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Somatic microindels: analysis in mouse soma and comparison with the human germline

7 January 2021

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Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing

7 January 2021

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7 January 2021

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7 January 2021

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Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research

7 January 2021

1 reference

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Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array

7 January 2021

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High-throughput red blood cell antigen genotyping using a nanofluidic real-time polymerase chain reaction platform

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Evolution of multidrug resistance during Staphylococcus aureus infection involves mutation of the essential two component regulator WalKR

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A genome-wide study of cytogenetic changes in colorectal cancer using SNP microarrays: opportunities for future personalized treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Oligonucleotide microarrays in constitutional genetic diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

SNP genotyping: technologies and biomedical applications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Massively parallel sequencing approaches for characterization of structural variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Development of a single tube 640-plex genotyping method for detection of nucleic acid variations on microarrays

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

High resolution melting for mutation scanning of TP53 exons 5-8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Initial impact of the sequencing of the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Initial sequencing and analysis of the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Integration of global spectral karyotyping, CGH arrays, and expression arrays reveals important genes in the pathogenesis of glioblastoma multiforme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays

7 January 2021

1 reference

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Erratum: Corrigendum: Performance comparison of benchtop high-throughput sequencing platforms

7 January 2021

1 reference

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Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases

7 January 2021

1 reference

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Retinal repair by transplantation of photoreceptor precursors

7 January 2021

1 reference

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A strategy to setup codominant microsatellite analysis for high-resolution-melting-curve-analysis (HRM).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

The impact of next-generation sequencing technology on genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Prospective genomic characterization of the German enterohemorrhagic Escherichia coli O104:H4 outbreak by rapid next generation sequencing technology

7 January 2021

1 reference

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Sequencing technologies - the next generation

7 January 2021

1 reference

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Genetic diversity and population structure of the endangered marsupial Sarcophilus harrisii (Tasmanian devil)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Current concepts in the treatment of retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Next-generation genetic testing for retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Sequencing technologies and genome sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

7 January 2021

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Generations of sequencing technologies

7 January 2021

1 reference

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Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

7 January 2021

1 reference

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A low-cost, high-throughput, automated single nucleotide polymorphism assay for forensic human DNA applications.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Arrayed primer extension on in situ synthesized 5'-->3' oligonucleotides in microchannels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Arrayed primer extension reaction for genotyping on oligonucleotide microarray.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

High-resolution DNA melting analysis for simple and efficient molecular diagnostics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A nanoliter fluidic platform for large-scale single nucleotide polymorphism genotyping.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Semiconductors charge into sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Seventh international meeting on single nucleotide polymorphism and complex genome analysis: 'ever bigger scans and an increasingly variable genome'.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

CYP1A2 and coffee intake and the modifying effect of sex, age, and smoking

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

An integrated semiconductor device enabling non-optical genome sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Four-Year Follow-up of Diagnostic Service in USH1 Patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Therapeutic challenges to retinitis pigmentosa: from neuroprotection to gene therapy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

DNA sequencing with chain-terminating inhibitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Single-nucleotide polymorphism array karyotyping in clinical practice: where, when, and how?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Copy number and SNP arrays in clinical diagnostics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A Survey of DNA Variation ofC2ORF71in Probands with Progressive Autosomal Recessive Retinal Degeneration and Controls

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

GENE SEQUENCING: The Race for the $1000 Genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Next-generation DNA sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Review and update: current treatment trends for patients with retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Mutation detection by solid phase primer extension

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Retrieving HapMap Data Using HapMart

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

High-resolution melting analysis (HRMA): a highly sensitive inexpensive genotyping alternative for population studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Whole-genome genotyping with the single-base extension assay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Genotype imputation for African Americans using data from HapMap phase II versus 1000 genomes projects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Uniparental disomy: can SNP array data be used for diagnosis?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

A comparison of statistical tests for detecting differential expression using Affymetrix oligonucleotide microarrays

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

The Sequence of the Human Genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Microdeletion and microduplication syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Ion torrent personal genome machine sequencing for genomic typing of Neisseria meningitidis for rapid determination of multiple layers of typing information

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1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

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1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

High-resolution melting analysis (HRMA): more than just sequence variant screening.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa

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1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Defining the integration capacity of embryonic stem cell-derived photoreceptor precursors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

High-resolution DNA melting analysis: advancements and limitations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

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1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Enhancement of rAAV2-mediated transgene expression in retina cells in vitro and in vivo by coadministration of low-dose chemotherapeutic drugs

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1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012

Subretinal electronic chips allow blind patients to read letters and combine them to words.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.09.012