Items where authors include "Moya, E"

Article

Bonnefoy, S, Watson, CM, Kernohan, KD et al. (22 more authors) (2018) Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. American Journal of Human Genetics, 103 (5). pp. 727-739. ISSN 0002-9297

Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

Shoemark, A, Moya, E, Hirst, RA et al. (34 more authors) (2018) High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax, 73 (2). pp. 157-166. ISSN 0040-6376

Robson, EA, Chetcuti, P, Hirst, RA et al. (6 more authors) (2017) Update on primary ciliary dyskinesia. Paediatrics and Child Health, 27 (7). pp. 337-342. ISSN 1751-7222

Conference or Workshop Item

Wheway, G, Legebeke, J, Carr, SB et al. (21 more authors) (2020) Primary ciliary dyskinesia and non-CF bronchiectasis in the 100,000 Genomes Project. In: 2020 ERS International Congress, 06-09 Sep 2020, Online.