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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Among authors: irving r. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911 Free article.
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Hamad A, Sherlaw-Sturrock CA, Glover K, Salmon R, Low K, Nair R, Sansbury FH, Rawlins L, Carmichael J, Horton R, Wedderburn S, Edgerley K, Irving R, Callaghan M, Mercer C, McGowan R, Robert L, Titheradge H, Naik S. Hamad A, et al. Among authors: irving r. Eur J Med Genet. 2023 Apr;66(4):104714. doi: 10.1016/j.ejmg.2023.104714. Epub 2023 Jan 29. Eur J Med Genet. 2023. PMID: 36724812
Dimethyl fumarate in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
RECOVERY Collaborative Group; Horby PW, Peto L, Staplin N, Campbell M, Pessoa-Amorim G, Mafham M, Emberson JR, Stewart R, Prudon B, Uriel A, Green CA, Dhasmana DJ, Malein F, Majumdar J, Collini P, Shurmer J, Yates B, Baillie JK, Buch MH, Day J, Faust SN, Jaki T, Jeffery K, Juszczak E, Knight M, Lim WS, Montgomery A, Mumford A, Rowan K, Thwaites G, Haynes R, Landray MJ. RECOVERY Collaborative Group, et al. Nat Commun. 2024 Jan 31;15(1):924. doi: 10.1038/s41467-023-43644-x. Nat Commun. 2024. PMID: 38296965 Free PMC article. Clinical Trial.
Head and Neck Cancer: United Kingdom National Multidisciplinary Guidelines, Sixth Edition.
Homer JJ, Winter SC, Abbey EC, Aga H, Agrawal R, Ap Dafydd D, Arunjit T, Axon P, Aynsley E, Bagwan IN, Batra A, Begg D, Bernstein JM, Betts G, Bicknell C, Bisase B, Brady GC, Brennan P, Brunet A, Bryant V, Cantwell L, Chandra A, Chengot P, Chua MLK, Clarke P, Clunie G, Coffey M, Conlon C, Conway DI, Cook F, Cooper MR, Costello D, Cosway B, Cozens NJA, Creaney G, Gahir DK, Damato S, Davies J, Davies KS, Dragan AD, Du Y, Edmond MRD, Fedele S, Finze H, Fleming JC, Foran BH, Fordham B, Foridi MMAS, Freeman L, Frew KE, Gaitonde P, Gallyer V, Gibb FW, Gore SM, Gormley M, Govender R, Greedy J, Urbano TG, Gujral D, Hamilton DW, Hardman JC, Harrington K, Holmes S, Homer JJ, Howland D, Humphris G, Hunter KD, Ingarfield K, Irving R, Isand K, Jain Y, Jauhar S, Jawad S, Jenkins GW, Kanatas A, Keohane S, Kerawala CJ, Keys W, King EV, Kong A, Lalloo F, Laws K, Leong SC, Lester S, Levy M, Lingley K, Madani G, Mani N, Matteucci PL, Mayland CR, McCaul J, McCaul LK, McDonnell P, McPartlin A, Mercadante V, Merchant Z, Mihai R, Moonim MT, Moore J, Nankivell P, Natu S, Nelson A, Nenclares P, Newbold K, Newland C, Nicol AJ, Nixon IJ, Obholzer R, O'Hara JT, Orr S, Paleri V, Palmer J, Parry RS, Pat… See abstract for full author list ➔ Homer JJ, et al. Among authors: irving r. J Laryngol Otol. 2024 Apr;138(S1):S1-S224. doi: 10.1017/S0022215123001615. Epub 2024 Mar 14. J Laryngol Otol. 2024. PMID: 38482835 Free article. No abstract available.
281 results