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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Mburu P, et al. Among authors: varela a. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159
Genetic mapping of the whirler mutation.
Rogers MJ, Fleming J, Kiernan BW, Mburu P, Varela A, Brown SD, Steel KP. Rogers MJ, et al. Among authors: varela a. Mamm Genome. 1999 May;10(5):513-9. doi: 10.1007/s003359901032. Mamm Genome. 1999. PMID: 10337627
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al. Weil D, et al. Among authors: varela a. Nature. 1995 Mar 2;374(6517):60-1. doi: 10.1038/374060a0. Nature. 1995. PMID: 7870171
A type VII myosin encoded by the mouse deafness gene shaker-1.
Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP, Brown SD. Gibson F, et al. Among authors: varela a. Nature. 1995 Mar 2;374(6517):62-4. doi: 10.1038/374062a0. Nature. 1995. PMID: 7870172
Unravelling the genetics of deafness.
Steel KP, Mburu P, Gibson F, Walsh J, Varela A, Brown K, Self T, Mahony M, Fleming J, Pearce A, Harvey D, Cable J, Brown SD. Steel KP, et al. Among authors: varela a. Ann Otol Rhinol Laryngol Suppl. 1997 May;168:59-62. Ann Otol Rhinol Laryngol Suppl. 1997. PMID: 9153119 Review.
Statistical analysis plan for the replacing protein via enteral nutrition in a stepwise approach in critically ill patients (REPLENISH) randomized clinical trial.
Arabi YM, Al-Dorzi HM, Aldibaasi O, Sadat M, Jose J, Muharib D, Algethamy H, Al-Fares AA, Al-Hameed F, Mady A, Kharaba A, Al Bshabshe A, Maghrabi K, AlGhamdi K, Rasool G, AlGhamdi A, Almekhlafi GA, Chalabi J, AlHumedi HI, Sakkijha MH, Alamrey NK, Alaskar AS, Alhutail RH, Sifaoui K, Alqahtani R, Qureshi AS, Hejazi MM, Arishi H, AlQahtani S, Ghazi AM, Baaziz ST, Azhar AO, Alabbas SF, AlAqeely M, AlOrabi O, Al-Mutawa A, AlOtaibi M, Elghannam MF, Almaani M, Buabbas SF, Alfilfil WAM, Alshahrani MS, Starkopf J, Preiser JC, Perner A, AlMubarak JH, Hazem WM, Albrahim T, Al-Dawood A; and the Saudi Critical Care Trials Group. Arabi YM, et al. Trials. 2024 May 2;25(1):296. doi: 10.1186/s13063-024-08105-w. Trials. 2024. PMID: 38698442 Free PMC article.
Exploring Reversible Redox Behavior in the 6H-BaFeO3-δ (0 < δ < 0.4) System: Impact of Fe3+/Fe4+ Ratio on CO Oxidation.
Gutiérrez-Martín D, Varela A, Hernando M, Torres-Pardo A, Matesanz E, Gómez-Recio I, González-Calbet JM, Fernández-Díaz MT, Calvino JJ, Cauqui MA, Yeste MP, Parras M. Gutiérrez-Martín D, et al. Among authors: varela a. Inorg Chem. 2024 Apr 29. doi: 10.1021/acs.inorgchem.4c00917. Online ahead of print. Inorg Chem. 2024. PMID: 38684934
650 results