Suchergebnisse - "RS1 protein, human"

PubPharm (213)

1

Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene

enthalten in: Documenta ophthalmologica. Advances in ophthalmology | 2024

von Azevedo, L. | Alvarez, M. | Botelho, G. | +2

2

Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene

enthalten in: Stem cell research | 2023

von Mao, S. | Sun, X. | Duan, C. | +7

3

Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India

enthalten in: American journal of medical genetics. Part A | 2023

von Chatterjee, S. | Gupta, S. | Kirola, L. | +3

4

X-linked retinoschisis : OCT-angiography in two brothers from a four-generation family with a p.Arg197Cys pathogenic variant in the RS1 gene

enthalten in: European journal of ophthalmology | 2023

von Carta, A. | Farci, R. | Galantuomo, M. | +1

5

Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis : Characteristics and Outcomes

enthalten in: Ophthalmic surgery, lasers & imaging retina | 2023

von da Cruz, N. | Sengillo, J. | Al-Khersan, H. | +4

6

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

enthalten in: Genes | 2023

von Kirkby, J. | Halford, S. | Shanks, M. | +6

7

Clinical and genetic features of retinoschisis in 120 families with RS1 mutations

enthalten in: The British journal of ophthalmology | 2023

von Xiao, S. | Sun, W. | Xiao, X. | +9

8

A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1

enthalten in: Ophthalmic genetics | 2022

von Tondelli, N. | Mencaroni, B. | Lemos, C. | +4

9

Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis

enthalten in: Klinische Monatsblatter fur Augenheilkunde | 2022

von Waibel, A. | Stoye, J. | Villavicencio-Lorini, P. | +4

10

Rs1h-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation

enthalten in: Gene therapy | 2022

von Zeng, Y. | Qian, H. | Campos, M. | +3

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