Suchergebnisse - "Chen, Shang-Chih"

PubPharm (38)

1

Rapid Variant Pathogenicity Analysis by CRISPR Activation of CRB1 Gene Expression in Patient-Derived Fibroblasts

enthalten in: The CRISPR journal | 2024

von Moon, S. | Zhang, D. | Chen, S. | +5

2

Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy

enthalten in: Cells | 2023

von Huang, Z. | Zhang, D. | Chen, S. | +4

3

Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts

enthalten in: Experimental eye research | 2022

von Huang, D. | Thompson, J. | Chen, S. | +14

4

Anti-retinal IgG antibodies in patients with early and advanced type 2 macular telangiectasia

enthalten in: Experimental eye research | 2022

von McLenachan, S. | Balaratnasingam, C. | Heath Jeffery, R. | +9

5

Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium

enthalten in: Journal of cellular and molecular medicine | 2021

von Huang, Z. | Zhang, D. | Chen, S. | +5

6

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

enthalten in: Genes | 2021

von McLenachan, S. | Zhang, D. | Grainok, J. | +16

7

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

enthalten in: Stem cell research | 2021

von Huang, D. | Zhang, D. | Chen, S. | +9

8

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

enthalten in: Stem cell research | 2021

von Moon, S. | Zhang, D. | Chen, S. | +6

9

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

enthalten in: Stem cell research | 2021

von Huang, D. | Zhang, D. | Chen, S. | +9

10

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy

enthalten in: Ophthalmic genetics | 2021

von Huang, Z. | Zhang, D. | Thompson, J. | +13