Items where authors include "Hirst, RA"

Article

Lee, DDH, Cardinale, D, Nigro, E et al. (18 more authors) (2021) Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia. European Respiratory Journal, 57 (6). p. 2000455. ISSN 0903-1936

Robson, EA, Dixon, L, Causon, L et al. (12 more authors) (2020) Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation. Neurology Genetics, 6 (4). e482. ISSN 2376-7839

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

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

Sheridan, EG orcid.org/0000-0002-7237-6280, Bonnefoy, S, Watson, CM et al. (17 more authors) (2019) Biallelic Mutations in LRRC56, encoding a protein associated with intraflagellar transport, causes defects in mucociliary clearance and laterality. In: 51st European Society of Human Genetics Conference, 16-19 Jun 2018, Milan, Italy.