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PreviewIssue DateTitleAuthor(s)
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
1995Detection of circulating tumor cells in colorectal cancer by Immunobead-PCR is a sensitive prognostic marker for relapse of diseaseHardingham, J.; Kotasek, D.; Sage, R.; Eaton, M.; Pascoe, V.; Dobrovic, A.
2019GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in CameroonTingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
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.
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
2019Chromosomal abnormalities and prognosis in NPM1-mutated acute myeloid leukemia: a pooled analysis of individual patient data from nine international cohortsAngenendt, L.; Röllig, C.; Montesinos, P.; Martínez-Cuadrón, D.; Barragan, E.; García, R.; Botella, C.; Martínez, P.; Ravandi, F.; Kadia, T.; Kantarjian, H.M.; Cortes, J.; Juliusson, G.; Lazarevic, V.; Höglund, M.; Lehmann, S.; Recher, C.; Pigneux, A.; Bertoli, S.; Dumas, P.Y.; et al.
2019Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studiesHan, X.; Souzeau, E.; Ong, J.S.; An, J.; Siggs, O.M.; Burdon, K.P.; Best, S.; Goldberg, I.; Healey, P.R.; Graham, S.L.; Ruddle, J.B.; Mills, R.A.; Landers, J.; Galanopoulos, A.; White, A.J.R.; Casson, R.; Mackey, D.A.; Hewitt, A.W.; Gharahkhani, P.; Craig, J.E.; et al.
2019Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in femalesJackson, M.R.; Loring, K.E.; Homan, C.C.; Thai, H.N.; Määttänen, L.; Arvio, M.; Jarvela, I.; Shaw, M.; Gardner, A.; Gecz, J.; Shoubridge, C.
2021Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemiaOchi, Y.; Yoshida, K.; Huang, Y.-J.; Kuo, M.-C.; Nannya, Y.; Sasaki, K.; Mitani, K.; Hosoya, N.; Hiramoto, N.; Ishikawa, T.; Branford, S.; Shanmuganathan, N.; Ohyashiki, K.; Takahashi, N.; Takaku, T.; Tsuchiya, S.; Kanemura, N.; Nakamura, N.; Ueda, Y.; Yoshihara, 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.