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Results 11-20 of 27 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weightFreathy, R.; Mook-Kanamori, D.; Sovio, U.; Prokopenko, I.; Timpson, N.; Berry, D.; Warrington, N.; Widen, E.; Jan Hottenga, J.; Kaakinen, M.; Lange, L.; Bradfield, J.; Kerkhof, M.; Marsh, J.; Mägi, R.; Chen, C.-M.; Lyon, H.; Kirin, M.; Adair, L.; Aulchenko, Y.; et al.
2010Hundreds of variants clustered in genomic loci and biological pathways affect human heightAllen, H.; Estrada, K.; Lettre, G.; Berndt, S.; Weedon, M.; Rivadeneira, F.; Willer, C.; Jackson, A.; Vedantam, S.; Raychaudhuri, S.; Ferreira, T.; Wood, A.; Weyant, R.; Segre, A.; Speliotes, E.; Wheeler, E.; Soranzo, N.; Park, J.-H.; Yang, J.; Gudbjartsson, D.; et al.
2010Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.
2010Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityWhibley, A.; Plagnol, V.; Tarpey, P.; Abidi, F.; Fullston, T.; Choma, M.; Boucher, C.; Shepherd, L.; Willatt, L.; Parkin, G.; Smith, R.; Futreal, P.; Shaw, M.; Boyle, J.; Licata, A.; Skinner, C.; Stevenson, R.; Turner, G.; Field, M.; Hackett, A.; et al.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationPearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.
2010Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trialJanda, M.; Gebski, V.; Brand, A.; Hogg, R.; Jobling, T.; Land, R.; Manolitsas, T.; McCartney, A.; Nascimento, M.; Neesham, D.; Nicklin, J.; Oehler, M.; Otton, G.; Perrin, L.; Salfinger, S.; Hammond, I.; Leung, Y.; Walsh, T.; Sykes, P.; Ngan, H.; et al.
2010B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humansAvery, D.; Deenick, E.; Ma, C.; Suryani, S.; Simpson, N.; Chew, G.; Chan, T.; Palendira, U.; Bustamante, J.; Boisson-Dupuis, S.; Choo, S.; Bleasel, K.; Peake, J.; King, C.; French, M.; Engelhard, D.; Al-Hajjar, S.; Al-Muhsen, S.; Magdorf, K.; Roesler, J.; et al.
2010Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityShoubridge, C.; Tarpey, P.; Abidi, F.; Ramsden, S.; Rujirabanjerd, S.; Murphy, J.; Boyle, J.; Shaw, M.; Gardner, A.; Proos, A.; Puusepp, H.; Raymond, F.; Schwartz, C.; Stevenson, R.; Turner, G.; Field, M.; Walikonis, R.; Harvey, R.; Hackett, A.; Futreal, P.; et al.