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Results 1-10 of 13 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
2016A genome-wide association study in multiple system atrophySailer, A.; Scholz, S.W.; Nalls, M.A.; Schulte, C.; Federoff, M.; Price, T.R.; Lees, A.; Ross, O.A.; Dickson, D.W.; Mok, K.; Mencacci, N.E.; Schottlaender, L.; Chelban, V.; Ling, H.; O'Sullivan, S.S.; Wood, N.W.; Traynor, B.J.; Ferrucci, L.; Federoff, H.J.; Mhyre, T.R.; et al.
2015Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer riskPainter, J.; O'Mara, T.; Batra, J.; Cheng, T.; Lose, F.; Dennis, J.; Michailidou, K.; Tyrer, J.; Ahmed, S.; Ferguson, K.; Healey, C.; Kaufmann, S.; Hillman, K.; Walpole, C.; Moya, L.; Pollock, P.; Jones, A.; Howarth, K.; Martin, L.; Gorman, M.; et al.
2022Eukaryotic elongation factor 2 kinase regulates foam cell formation via translation of CD36Fernando, S.; Salagaras, T.; Schwarz, N.; Sandeman, L.; Tan, J.T.M.; Xie, J.; Zareh, J.; Jensen, K.; Williamson, A.; Dimasi, C.; Chhay, P.; Toledo-Flores, D.; Long, A.; Manavis, J.; Worthington, M.; Fitridge, R.; Di Bartolo, B.A.; Bursill, C.A.; Nicholls, S.J.; Proud, C.G.; et al.
2015Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresYamamoto, T.; Shimojima, K.; Sangu, N.; Komoike, Y.; Ishii, A.; Abe, S.; Yamashita, S.; Imai, K.; Kubota, T.; Fukasawa, T.; Okanishi, T.; Enoki, H.; Tanabe, T.; Saito, A.; Furukawa, T.; Shimizu, T.; Milligan, C.; Petrou, S.; Heron, S.; Dibbens, L.; et al.; Ishii, R.
2015Parallel gene expression changes in sarcoidosis involving the lacrimal gland, orbital tissue, or bloodRosenbaum, J.; Choi, D.; Wilson, D.; Grossniklaus, H.; Harrington, C.; Sibley, C.; Dailey, R.; Ng, J.; Steele, E.; Czyz, C.; Foster, J.; Tse, D.; Alabiad, C.; Dubovy, S.; Parekh, P.; Harris, G.; Kazim, M.; Patel, P.; White, V.; Dolman, P.; et al.
2010Genome-wide association study identifies five loci associated with lung functionRepapi, E.; Sayers, I.; Wain, L.; Burton, P.; Johnson, T.; Obeidat, M.; Zhao J-, H.; Ramasamy, A.; Zhai, G.; Vitart, V.; Huffman, J.; Igl, W.; Albrecht, E.; Deloukas, P.; Henderson, J.; Granell, R.; McArdle, W.; Rudnicka, A.; Wellcome Trust Case Control Consortium,; Barroso, I.; et al.
2012Glucokinase links Kruppel-like factor 6 to the regulation of hepatic insulin sensitivity in nonalcoholic fatty liver diseaseBechmann, L.; Gastaldelli, A.; Vetter, D.; Patman, G.; Pascoe, L.; Hannivoort, R.; Lee, U.; Fiel, I.; Munoz, U.; Ciociaro, D.; Lee, Y.; Buzzigoli, E.; Miele, L.; Hui, K.; Bugianesi, E.; Burt, A.; Day, C.; Mari, A.; Agius, L.; Walker, M.; et al.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.

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