Found: 9
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 168, doi. 10.1186/s13023-014-0168-7
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- Article
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13964, doi. 10.3390/ijms232213964
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- Article
Usher Syndrome: Genetics of a Human Ciliopathy.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6723, doi. 10.3390/ijms22136723
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- Article
Genetic Screening of the Usher Syndrome in Cuba.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00501
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- Article
Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06959-z
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- Article
Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 8, p. 922, doi. 10.1111/aos.14795
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- Article
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35085-0
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- Article
Generating universal anti-CD19 CAR T cells with a defined memory phenotype by CRISPR/Cas9 editing and safety evaluation of the transcriptome.
- Published in:
- Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1401683
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- Article
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 473, doi. 10.3390/genes11050473
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- Article