AAAAAA

   
Results: 1-7 |
Results: 7
Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis (vol 71, pg 154, 2000)
Authors: Battaile, KP Steiner, RD
Citation: Kp. Battaile et Rd. Steiner, Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis (vol 71, pg 154, 2000), MOL GEN MET, 73(1), 2001, pp. 114-115
Carrier frequency of the common mutation IVS8-IG > C in DHCR7 and estimateof the expected incidence of Smith-Lemli-Opitz syndrome
Authors: Battaile, KP Battaile, BC Merkens, LS Maslen, CL Steiner, RD
Citation: Kp. Battaile et al., Carrier frequency of the common mutation IVS8-IG > C in DHCR7 and estimateof the expected incidence of Smith-Lemli-Opitz syndrome, MOL GEN MET, 72(1), 2001, pp. 67-71
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
Authors: Wassif, CA Zhu, PJ Kratz, L Krakowiak, PA Battaile, KP Weight, FF Grinberg, A Steiner, RD Nwokoro, NA Kelley, RI Stewart, RR Porter, FD
Citation: Ca. Wassif et al., Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome, HUM MOL GEN, 10(6), 2001, pp. 555-564
Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis
Authors: Battaile, KP Steiner, RD
Citation: Kp. Battaile et Rd. Steiner, Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis, MOL GEN MET, 71(1-2), 2000, pp. 154-162
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
Authors: Linck, LM Hayflick, SJ Lin, DS Battaile, KP Ginat, S Burlingame, T Gibson, KM Honda, M Honda, A Salen, G Tint, GS Connor, WE Steiner, RD
Citation: Lm. Linck et al., Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi, PRENAT DIAG, 20(3), 2000, pp. 238-240
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping
Authors: Krakowiak, PA Nwokoro, NA Wassif, CA Battaile, KP Nowaczyk, MJM Connor, WE Maslen, C Steiner, RD Porter, FD
Citation: Pa. Krakowiak et al., Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping, AM J MED G, 94(3), 2000, pp. 214-227
In vivo selection of wild-type hematopoietic stem cells in a murine model of Fanconi anemia
Authors: Battaile, KP Bateman, RL Mortimer, D Mulcahy, J Rathbun, RK Bagby, G Fleming, WH Grompe, M
Citation: Kp. Battaile et al., In vivo selection of wild-type hematopoietic stem cells in a murine model of Fanconi anemia, BLOOD, 94(6), 1999, pp. 2151-2158
Risultati: 1-7 |