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Results 1-10 of 83 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
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.
2014Inactivating mutations in NPC1L1 and protection from coronary heart diseaseStitziel, N.O.; Won, H.H.; Morrison, A.C.; Peloso, G.M.; Do, R.; Lange, L.A.; Fontanillas, P.; Gupta, N.; Duga, S.; Goel, A.; Farrall, M.; Saleheen, D.; Ferrario, P.; König, I.; Asselta, R.; Merlini, P.A.; Marziliano, N.; Notarangelo, M.F.; Schick, U.; Auer, P.; et al.
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2014The relationship between rash, tumour KRAS mutation status and clinical and quality of life outcomes in patients with advanced colorectal cancer treated with cetuximab in the NCIC CTG/AGITG CO.17Sommeijer, D.; Karapetis, C.; Zalcberg, J.; Tu, D.; Jonker, D.; Simes, J.; Tebbutt, N.; Yip, D.; Price, T.; O'Callaghan, C.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
2014First Australian report of vitamin D-dependent rickets type IIto, N.; Peña, A.; Perano, S.; Atkins, G.; Findlay, D.; Couper, J.
2016Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismHughes, J.; Aubert, M.; Heatlie, J.; Gardner, A.; Gecz, J.; Morgan, T.; Belsky, J.; Thomas, P.
2015p84 forms a negative regulatory complex with p110γ to control PI3Kγ signalling during cell migrationTurvey, M.; Klingler-Hoffmann, M.; Hoffmann, P.; McColl, S.
2014Dose selection, pharmacokinetics, and pharmacodynamics of BRAF inhibitor dabrafenib (GSK2118436)Falchook, G.; Long, G.; Kurzrock, R.; Kim, K.; Arkenau, H.; Brown, M.; Hamid, O.; Infante, J.; Millward, M.; Pavlick, A.; Chin, M.; O'Day, S.; Blackman, S.; Curtis, C.; Lebowitz, P.; Ma, B.; Ouellet, D.; Kefford, R.

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