Items where authors include "Downes, S"

Article

de Bruijn, SE, Fiorentino, A, Ottaviani, D et al. (34 more authors) (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. The American Journal of Human Genetics, 107 (5). pp. 802-814. ISSN 0002-9297

Fiorentino, A, Yu, J, Arno, G et al. (28 more authors) (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision, 24. pp. 603-612. ISSN 1090-0535

Mughal, S, Moghul, I, Yu, J et al. (28 more authors) (2017) Pheno4J: A gene to phenotype graph database. Bioinformatics, 33 (20). pp. 3317-3319. ISSN 1367-4803

Xu, M, Xie, YA, Abouzeid, H et al. (64 more authors) (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics, 100 (4). pp. 592-604. ISSN 0002-9297

Stevens, JS, de Luca, AC, Downes, S et al. (2 more authors) (2014) Immobilisation of cell-binding peptides on poly-epsilon-caprolactone (PCL) films: A comparative XPS study of two chemical surface functionalisation methods. Surface and Interface Analysis, 46 (10-11). 673 - 678. ISSN 0142-2421

Stevens, JS, De Luca, AC, Pelendritis, M et al. (3 more authors) (2013) Quantitative analysis of complex amino acids and RGD peptides by X-ray photoelectron spectroscopy (XPS). Surface and Interface Analysis, 45 (8). 1238 - 1246. ISSN 0142-2421