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Results: 1-10 |
Results: 10

Authors: Dequeker, E Ramsden, S Grody, WW Stenzel, TT Barton, DE
Citation: E. Dequeker et al., Quality control in molecular genetic testing, NAT REV GEN, 2(9), 2001, pp. 717-723

Authors: Rovio, AT Marchington, DR Donat, S Schuppe, HC Abe, J Fritsche, E Elliott, DJ Laippala, P Ahola, AL McNay, D Harrison, RF Hughes, B Barrett, T Bailey, DMD Mehmet, D Jequier, AM Hargreave, TB Kao, SH Cummins, JM Barton, DE Cooke, HJ Wei, YH Wichmann, L Poulton, J Jacobs, HT
Citation: At. Rovio et al., Mutations at the mitochondrial DNA polymerase (POLG) locus associated withmale infertility, NAT GENET, 29(3), 2001, pp. 261-262

Authors: Quintana-Murci, L Krausz, C Heyer, E Gromoll, J Seifer, I Barton, DE Barrett, T Skakkebaek, NE Rajpert-De Meyts, E Mitchell, M Lee, AC Jobling, MA McElreavey, K
Citation: L. Quintana-murci et al., The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility, HUM GENET, 108(1), 2001, pp. 55-58

Authors: Rowland, JS Barton, DE Taylor, GR
Citation: Js. Rowland et al., A comparison of methods for gene dosage analysis in HMSN type 1, J MED GENET, 38(2), 2001, pp. 90-95

Authors: McCabe, DJH Ryan, F Moore, DP McQuaid, S King, MD Kelly, A Daly, K Barton, DE Murphy, RP
Citation: Djh. Mccabe et al., Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia (vol 247, pg 346, 2000), J NEUROL, 247(6), 2000, pp. 483-483

Authors: Pittock, SJ Joyce, C O'Keane, V Hugle, B Hardiman, O Brett, F Green, AJ Barton, DE King, MD Webb, DW
Citation: Sj. Pittock et al., Rapid-onset dystonia-parkinsonism - A clinical and genetic analysis of a new kindred, NEUROLOGY, 55(7), 2000, pp. 991-995

Authors: Mazoyer, S Leary, J Kirk, J Fleischmann, E Wagner, T Claes, K Messiaen, L Foulkes, W Desrochers, M Simard, J Phelan, CM Kwan, E Narod, SA Vahteristo, P Nevanlinna, H Durando, X Bignon, YJ Peyrat, JP Bonnardel, C Sinilnikova, OM Puget, N Lenoir, GM Mazoyer, S Audoynaud, C Goldgar, D Maugard, C Caux, V Gad, S Stoppa-Lyonnet, D Nogues, C Lidereau, R Machavoine, C Bressac-de Paillerets, B Kuschel, B Betz, B Niederacher, D Beckmann, MW Hamann, U Gayther, SA Ponder, BAP Robinson, M Taylor, GR Bishop, T Catteau, A Solomon, E Cohen, B Steel, M Collins, N Stratton, M van der Looij, M Olah, E Miller, NJ Barton, DE Sverdlov, RS Friedman, E Radice, P Montagna, M Sensi, E Caligo, M van Eijk, R Devilee, P van der Luijt, R Heimdal, K Moller, P Borg, A Diez, O Cortes, J Domenech, M Baiget, M Osorio, A Benitez, J Borg, A Maillet, P Sappino, AP Ozdag, H Ozcelik, T Ozturk, M Rohlfs, EM Boyd, J McDermott, D Offit, K Unger, M Nathanson, K Weber, BL Sellers, TA Hampton, E Couch, FJ Neuhausen, S
Citation: S. Mazoyer et al., The exon 13 duplication in the BRCA1 gene is a founder mutation present ingeographically diverse populations, AM J HU GEN, 67(1), 2000, pp. 207-212

Authors: Bull, LN Juijn, JA Liao, M van Eijk, MJT Sinke, RJ Stricker, NL DeYoung, JA Carlton, VEH Baharloo, S Klomp, LWJ Abukawa, D Barton, DE Bass, NM Bourke, B Drumm, B Jankowska, I Lovisetto, P McQuaid, S Pawlowska, J Tazawa, Y Villa, E Tygstrup, N Berger, R Knisely, AS Houwen, RHJ Freimer, NB
Citation: Ln. Bull et al., Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 andBRIC (vol 104, pg 241, 1999), HUM GENET, 104(6), 1999, pp. 528-528

Authors: Bull, LN Juijn, JA Liao, M van Eijk, MJT Sinke, RJ Stricker, NL DeYoung, JA Carlton, VEH Baharloo, S Klomp, LWJ Abukawa, D Barton, DE Bass, NM Bourke, B Drumm, B Jankowska, I Lovisetto, P McQuaid, S Pawlowska, J Tazawa, Y Villa, E Tygstrup, N Berger, R Knisely, AS Houwen, RHJ Freimer, NB
Citation: Ln. Bull et al., Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 andBRIC, HUM GENET, 104(3), 1999, pp. 241-248

Authors: Glaser, B Ryan, F Donath, M Landau, H Stanley, CA Baker, L Barton, DE Thornton, PS
Citation: B. Glaser et al., Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene, DIABETES, 48(8), 1999, pp. 1652-1657
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