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Results 1631-1640 of 1786 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
2017A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformationsPalmer, E.E.; Kumar, R.; Gordon, C.T.; Shaw, M.; Hubert, L.; Carroll, R.; Rio, M.; Murray, L.; Leffler, M.; Dudding-Byth, T.; Oufadem, M.; Lalani, S.R.; Lewis, A.M.; Xia, F.; Tam, A.; Webster, R.; Brammah, S.; Filippini, F.; Pollard, J.; Spies, J.; et al.
2013Ceftriaxone treatment failure in cephalosporin-susceptible Escherichia coli bacteraemiaPapanicolas, L.E.; Bell, J.M.; Weldhagen, G.F.; Bastian, I.
2010Genotypic diversity in Oenococcus oeni by high-density microarray comparative genome hybridization and whole genome sequencingBorneman, A.R.; Bartowsky, E.J.; McCarthy, J.; Chambers, P.J.
2015Reduced reaction volumes and increased Taq DNA polymerase concentration improve STR profiling outcomes from a real-world low template DNA source: telogen hairsMcNevin, D.; Edson, J.; Robertson, J.; Austin, J.J.
2018Identification of loop D domain amino acids in the human Aquaporin-1 channel involved in activation of the ionic conductance and inhibition by AqB011Kourghi, M.; De Ieso, M.; Nourmohammadi, S.; Pei, J.; Yool, A.
2016A method to exploit the structure of genetic ancestry space to enhance case-control studiesBodea, C.A.; Neale, B.M.; Ripke, S.; Barclay, M.; Peyrin-Biroulet, L.; Chamaillard, M.; Colombel, J.F.; Cottone, M.; Croft, A.; D'Incà, R.; Halfvarson, J.; Hanigan, K.; Henderson, P.; Hugot, J.P.; Karban, A.; Kennedy, N.A.; Khan, M.A.; Lémann, M.; Levine, A.; Massey, D.; et al.
2017Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxietyMoir, L.; Bochukova, E.G.; Dumbell, R.; Banks, G.; Bains, R.S.; Nolan, P.M.; Scudamore, C.; Simon, M.; Watson, K.A.; Keogh, J.; Henning, E.; Hendricks, A.; O'Rahilly, S.; Barroso, I.; Sullivan, A.E.; Bersten, D.C.; Whitelaw, M.L.; Kirsch, S.; Bentley, E.; Farooqi, I.S.; et al.
2017Self unbound: ego dissolution in psychedelic experienceLetheby, C.; Gerrans, P.
2014Breast cancer stem cells and the immune system: promotion, evasion and therapyBoyle, S.T.; Kochetkova, M.

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