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Page 1
Clinical features of type 2 Stickler syndrome.
Poulson AV, Hooymans JM, Richards AJ, Bearcroft P, Murthy R, Baguley DM, Scott JD, Snead MP. Poulson AV, et al. Among authors: baguley dm. J Med Genet. 2004 Aug;41(8):e107. doi: 10.1136/jmg.2004.018382. J Med Genet. 2004. PMID: 15286167 Free PMC article. No abstract available.
Auditory dysfunction in type 2 Stickler Syndrome.
Alexander P, Gomersall P, Stancel-Lewis J, Fincham GS, Poulson A, Richards A, McNinch A, Baguley DM, Snead M. Alexander P, et al. Among authors: baguley dm. Eur Arch Otorhinolaryngol. 2021 Jul;278(7):2261-2268. doi: 10.1007/s00405-020-06306-y. Epub 2020 Sep 8. Eur Arch Otorhinolaryngol. 2021. PMID: 32901364 Free PMC article.
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: baguley dm. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.
A review on the genetics of otosclerosis.
Moumoulidis I, Axon P, Baguley D, Reid E. Moumoulidis I, et al. Clin Otolaryngol. 2007 Aug;32(4):239-47. doi: 10.1111/j.1365-2273.2007.01475.x. Clin Otolaryngol. 2007. PMID: 17651264 Review.
Physical, cognitive, and mental health impacts of COVID-19 after hospitalisation (PHOSP-COVID): a UK multicentre, prospective cohort study.
Evans RA, McAuley H, Harrison EM, Shikotra A, Singapuri A, Sereno M, Elneima O, Docherty AB, Lone NI, Leavy OC, Daines L, Baillie JK, Brown JS, Chalder T, De Soyza A, Diar Bakerly N, Easom N, Geddes JR, Greening NJ, Hart N, Heaney LG, Heller S, Howard L, Hurst JR, Jacob J, Jenkins RG, Jolley C, Kerr S, Kon OM, Lewis K, Lord JM, McCann GP, Neubauer S, Openshaw PJM, Parekh D, Pfeffer P, Rahman NM, Raman B, Richardson M, Rowland M, Semple MG, Shah AM, Singh SJ, Sheikh A, Thomas D, Toshner M, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Wain LV, Brightling CE; PHOSP-COVID Collaborative Group. Evans RA, et al. Lancet Respir Med. 2021 Nov;9(11):1275-1287. doi: 10.1016/S2213-2600(21)00383-0. Epub 2021 Oct 7. Lancet Respir Med. 2021. PMID: 34627560 Free PMC article.
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K. Schoenmakers E, et al. J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15. J Clin Invest. 2010. PMID: 21084748 Free PMC article.
237 results