Items where authors include "Ayuso, C"

Article

El-Asrag, ME, Corton, M, McKibbin, M et al. (7 more authors) (2022) Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. Molecular Vision, 28. pp. 48-56. ISSN 1090-0535

Van de Sompele, S, Smith, C orcid.org/0000-0001-8320-5105, Karali, M et al. (24 more authors) (2019) Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (6). pp. 1319-1329. ISSN 1098-3600

Van de Sompele, S, Smith, C, Karali, M et al. (24 more authors) (2019) Correction to: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (4). p. 1028. ISSN 1098-3600

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