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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Bryen SJ, et al. Among authors: doyle h. Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31660661 Free PMC article.
Conversion of the Liver into a Biofactory for DNaseI Using Adeno-Associated Virus Vector Gene Transfer Reduces Neutrophil Extracellular Traps in a Model of Systemic Lupus Erythematosus.
Ahmad A, Mandwie M, O'Sullivan KM, Smyth C, York J, Doyle H, Holdsworth SR, Pickering MC, Lachmann PJ, Alexander IE, Logan GJ. Ahmad A, et al. Among authors: doyle h. Hum Gene Ther. 2022 May;33(9-10):560-571. doi: 10.1089/hum.2021.264. Hum Gene Ther. 2022. PMID: 35293226
Candida chorioamnionitis associated with late stillbirth: A case report.
Obermair HM, Bhagwanani G, Caldas R, Doyle H, Smoleniec J, Adno A. Obermair HM, et al. Among authors: doyle h. Case Rep Womens Health. 2020 Jul 6;27:e00239. doi: 10.1016/j.crwh.2020.e00239. eCollection 2020 Jul. Case Rep Womens Health. 2020. PMID: 32714843 Free PMC article.
Subacute osteomyelitis caused by Fusobacterium nucleatum in a healthy child.
Almuzam S, Howard-Jones AR, Birke O, Doyle H, Kesson AM, Marais BJ. Almuzam S, et al. Among authors: doyle h. J Paediatr Child Health. 2021 Dec;57(12):2010-2011. doi: 10.1111/jpc.15408. Epub 2021 Mar 10. J Paediatr Child Health. 2021. PMID: 33751703 No abstract available.
Treatment of neonatal sepsis with intravenous immune globulin.
INIS Collaborative Group; Brocklehurst P, Farrell B, King A, Juszczak E, Darlow B, Haque K, Salt A, Stenson B, Tarnow-Mordi W. INIS Collaborative Group, et al. N Engl J Med. 2011 Sep 29;365(13):1201-11. doi: 10.1056/NEJMoa1100441. N Engl J Med. 2011. PMID: 21962214 Free article. Clinical Trial.
205 results