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Results 51-60 of 85 (Search time: 0.012 seconds).
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PreviewIssue DateTitleAuthor(s)
2016De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformationsReijnders, M.; Zachariadis, V.; Latour, B.; Jolly, L.; Mancini, G.; Pfundt, R.; Wu, K.; Van Ravenswaaij-Arts, C.; Veenstra-Knol, H.; Anderlid, B.; Wood, S.; Cheung, S.; Barnicoat, A.; Probst, F.; Magoulas, P.; Brooks, A.; Malmgren, H.; Harila-Saari, A.; Marcelis, C.; Vreeburg, M.; et al.
2010Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic studyBuchanan, D.; Sweet, K.; Drini, M.; Jenkins, M.; Win, A.; Gattas, M.; Walsh, M.; Clendenning, M.; McKeone, D.; Walters, R.; Roberts, A.; Young, A.; Hampel, H.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; Young, G.; Chow, E.; et al.
2011Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)Roberts, A.; Nancarrow, D.; Clendenning, M.; Buchanan, D.; Jenkins, M.; Duggan, D.; Taverna, D.; McKeone, D.; Walters, R.; Walsh, M.; Young, B.; Jass, J.; Rosty, C.; Gattas, M.; Pelzer, E.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; 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.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; 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.
2011Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Jensen, L.; Wei, C.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V.; Meloni, I.; Raynaud, M.; Van Esch, H.; Chelly, J.; de Brouwer, A.; Hackett, A.; van der Haar, S.; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; 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.

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