Found: 19
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In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone–Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs.
- Published in:
- Animal Genetics, 2023, v. 54, n. 5, p. 606, doi. 10.1111/age.13345
- By:
- Publication type:
- Article
Genetic findings in over 600 individuals with inherited retinal disorders in Finland.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
TCF4 trinucleotide repeat expansion in Finnish patients with Fuchs' endothelial corneal dystrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0258
- By:
- Publication type:
- Article
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1327, doi. 10.3390/genes13081327
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- Publication type:
- Article
In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1908, doi. 10.3390/genes12121908
- By:
- Publication type:
- Article
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1771, doi. 10.3390/genes12111771
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- Publication type:
- Article
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
- Published in:
- Human Genetics, 2021, v. 140, n. 11, p. 1569, doi. 10.1007/s00439-021-02266-3
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- Publication type:
- Article
Formal commentary.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009059
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- Publication type:
- Article
A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 3, p. 1, doi. 10.1371/journal.pgen.1008659
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- Publication type:
- Article
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.
- Published in:
- Genes, 2019, v. 10, n. 5, p. 385, doi. 10.3390/genes10050385
- By:
- Publication type:
- Article
Correction: Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007361
- By:
- Publication type:
- Article
An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183021
- By:
- Publication type:
- Article
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.
- Published in:
- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 7, p. 2327, doi. 10.1534/g3.117.043109
- By:
- Publication type:
- Article
Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing.
- Published in:
- Journal of Veterinary Internal Medicine, 2017, v. 31, n. 2, p. 539, doi. 10.1111/jvim.14599
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- Publication type:
- Article
Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161005
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- Publication type:
- Article
Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114552
- By:
- Publication type:
- Article
A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111941
- By:
- Publication type:
- Article