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Results 61-70 of 85 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2012Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registryWalsh, M.; Buchanan, D.; Pearson, S.; Clendenning, M.; Jenkins, M.; Win, A.; Walters, R.; Spring, K.; Nagler, B.; Pavluk, E.; Arnold, S.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; Hopper, J.; Jass, J.; Baron, J.; Ahnen, D.; Thibodeau, S.; et al.
2013Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AReinstein, E.; Frentz, S.; Morgan, T.; Garcia-Minaur, S.; Leventer, R.; McGillivray, G.; Pariani, M.; van der Steen, A.; Pope, M.; Holder-Espinasse, M.; Scott, R.; Thompson, E.; Robertson, T.; Coppin, B.; Siegel, R.; Zurita, M.; Rodriguez, J.; Morales, C.; Rodrigues, Y.; Arcas, J.; et al.
2010PHF6 mutations in T-cell acute lymphoblastic leukemiaVan Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
2010De novo mutations of SETBP1 cause Schinzel-Giedion syndromeHoischen, A.; Van Bon, B.; Gilissen, C.; Arts, P.; van Lier, B.; Steehouwer, M.; de Vries, P.; de Reuver, R.; Wieskamp, N.; Mortier, G.; Devriendt, K.; Amorim, M.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Olay, C.; Henderson, A.; Hayes, I.; et al.
2012Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disabilityNguyen, L.; Jolly, L.; Shoubridge, C.; Chan, W.; Huang, L.; Laumonnier, F.; Raynaud, M.; Hackett, A.; Field, M.; Rodriguez, J.; Srivastava, A.; Lee, Y.; Long, R.; Addington, A.; Rapaport, J.; Suren, S.; Hahn, C.; Gamble, J.; Wilkinson, M.; Corbett, M.; et al.
2011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHe, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al.
2014IFPA Meeting 2013 Workshop Report I: diabetes in pregnancy, maternal dyslipidemia in pregnancy, oxygen in placental development, stem cells and pregnancy pathologyAbumaree, M.; Alahari, S.; Albrecht, C.; Aye, I.; Bainbridge, S.; Chauvin, S.; Clifton, V.; Desoye, G.; Ermini, L.; Giuffrida, D.; Graham, C.; Huang, Q.; Kalionis, B.; Lager, S.; Leach, L.; Li, Y.; Litvack, M.; Nuzzo, A.; Moretto-Zita, M.; O'Tierney-Ginn, P.; et al.
2016Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortEggers, S.; Sadedin, S.; van den Bergen, J.; Robevska, G.; Ohnesorg, T.; Hewitt, J.; Lambeth, L.; Bouty, A.; Knarston, I.; Tan, T.; Cameron, F.; Werther, G.; Hutson, J.; O'Connell, M.; Grover, S.; Heloury, Y.; Zacharin, M.; Bergman, P.; Kimber, C.; Brown, J.; et al.
2014Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study groupBuitenkamp, T.D.; Izraeli, S.; Zimmermann, M.; Forestier, E.; Heerema, N.A.; van den Heuvel-Eibrink, M.M.; Pieters, R.; Korbijn, C.M.; Silverman, L.B.; Schmiegelow, K.; Liang, D.-C.; Horibe, K.; Arico, M.; Biondi, A.; Basso, G.; Rabin, K.R.; Schrappe, M.; Cario, G.; Mann, G.; Morak, M.; et al.
2012Improved surgical safety after laparoscopic compared to open surgery for apparent early stage endometrial cancer: results from a randomised controlled trialObermair, A.; Janda, M.; Baker, J.; Kondalsamy-Chennakesavan, S.; Brand, A.; Hogg, R.; Jobling, T.W.; Land, R.; Manolitsas, T.; Nascimento, M.; Neesham, D.; Nicklin, J.L.; Oehler, M.K.; Otton, G.; Perrin, L.; Salfinger, S.; Hammond, I.; Leung, Y.; Sykes, P.; Ngan, H.; et al.