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Planning the human variome project: the Spain report.
Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Va… See abstract for full author list ➔ Kaput J, et al. Among authors: oefner pj. Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972. Hum Mutat. 2009. PMID: 19306394 Free PMC article.
Conservation of the RB1 gene in human and primates.
Sivakumaran TA, Shen P, Wall DP, Do BH, Kucheria K, Oefner PJ. Sivakumaran TA, et al. Among authors: oefner pj. Hum Mutat. 2005 Apr;25(4):396-409. doi: 10.1002/humu.20154. Hum Mutat. 2005. PMID: 15776430
Two ATM variants and breast cancer risk.
Thompson D, Antoniou AC, Jenkins M, Marsh A, Chen X, Wayne T, Tesoriero A, Milne R, Spurdle A, Thorstenson Y, Southey M, Giles GG, Khanna KK, Sambrook J, Oefner P, Goldgar D, Hopper JL, Easton D, Chenevix-Trench G; KConFab Investigators. Thompson D, et al. Hum Mutat. 2005 Jun;25(6):594-5. doi: 10.1002/humu.9344. Hum Mutat. 2005. PMID: 15880680
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.
Shiri-Sverdlov R, Oefner P, Green L, Baruch RG, Wagner T, Kruglikova A, Haitchick S, Hofstra RM, Papa MZ, Mulder I, Rizel S, Bar Sade RB, Dagan E, Abdeen Z, Goldman B, Friedman E. Shiri-Sverdlov R, et al. Hum Mutat. 2000 Dec;16(6):491-501. doi: 10.1002/1098-1004(200012)16:6<491::AID-HUMU6>3.0.CO;2-J. Hum Mutat. 2000. PMID: 11102978
Fishing for domains of the CCM3 protein.
Oefner P. Oefner P. Hum Mutat. 2009 Jun;30(6):v. doi: 10.1002/humu.21052. Hum Mutat. 2009. PMID: 19479955 No abstract available.
295 results