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Results 1-10 of 15 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2017YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunctionGabriele, M.; Vulto-van Silfhout, A.; Germain, P.; Vitriolo, A.; Kumar, R.; Douglas, E.; Haan, E.; Kosaki, K.; Takenouchi, T.; Rauch, A.; Steindl, K.; Frengen, E.; Misceo, D.; Pedurupillay, C.; Stromme, P.; Rosenfeld, J.; Shao, Y.; Craigen, W.; Schaaf, C.; Rodriguez-Buritica, D.; et al.
2017Getting it right when budgets are tight: Using optimal expansion pathways to prioritize responses to concentrated and mixed HIV epidemicsStuart, R.; Kerr, C.; Haghparast-Bidgoli, H.; Estill, J.; Grobicki, L.; Baranczuk, Z.; Prieto, L.; Montañez, V.; Reporter, I.; Gray, R.; Skordis-Worrall, J.; Keiser, O.; Cheikh, N.; Boonto, K.; Osornprasop, S.; Lavadenz, F.; Benedikt, C.; Martin-Hughes, R.; Hussain, S.; Kelly, S.; et al.; Brañas-Garza, P.
2017NAD deficiency, congenital malformations, and niacin supplementationShi, H.; Enriquez, A.; Rapadas, M.; Martin, E.; Wang, R.; Moreau, J.; Lim, C.; Szot, J.; Ip, E.; Hughes, J.; Sugimoto, K.; Humphreys, D.; McInerney-Leo, A.; Leo, P.; Maghzal, G.; Halliday, J.; Smith, J.; Colley, A.; Mark, P.; Collins, F.; et al.
2017Multicenter, International Study of MIC/ MEC Distributions for definition of epidemiological cutoff values for sporothrix species identified by molecular methodsEspinel-Ingroff, A.; Abreu, D.P.B.; Almeida-Paes, R.; Brilhante, R.S.N.; Chakrabarti, A.; Chowdhary, A.; Hagen, F.; Córdoba, S.; Gonzalez, G.M.; Govender, N.P.; Guarro, J.; Johnson, E.M.; Kidd, S.; Pereira, S.A.; Rodrigues, A.M.; Rozental, S.; Szeszs, M.W.; Ballesté Alaniz, R.; Bonifaz, A.; Bonfietti, L.X.; et al.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2017Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; et al.
2017The Stone Age plague and its persistence in EurasiaAndrades Valtueña, A.; Mittnik, A.; Key, F.; Haak, W.; Allmäe, R.; Belinskij, A.; Daubaras, M.; Feldman, M.; Jankauskas, R.; Janković, I.; Massy, K.; Novak, M.; Pfrengle, S.; Reinhold, S.; Šlaus, M.; Spyrou, M.; Szécsényi-Nagy, A.; Tõrv, M.; Hansen, S.; Bos, K.; et al.
2017Proposed primary endpoints for use in clinical trials that compare treatment options for bloodstream infection in adults: a consensus definitionHarris, P.; McNamara, J.; Paterson, D.; Harris, P.; McNamara, J.; Lye, D.; Davis, J.; Tong, S.; Davis, J.; Bernard, L.; Cheng, A.; Cheng, A.; Doi, Y.; Fowler, V.; Kaye, K.; Leibovici, L.; Leibovici, L.; Lipman, J.; Lipman, J.; Lipman, J.; et al.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; 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.