1. Adelaide Research & Scholarship

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Results 1-10 of 17 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2019International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine gliomaTsoli, M.; Shen, H.; Mayoh, C.; Franshaw, L.; Ehteda, A.; Upton, D.; Carvalho, D.; Vinci, M.; Meel, M.H.; van Vuurden, D.; Plessier, A.; Castel, D.; Drissi, R.; Farrell, M.; Cryan, J.; Crimmins, D.; Caird, J.; Pears, J.; Francis, S.; Ludlow, L.E.A.; et al.
2019Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesiaGorman, K.M.; Meyer, E.; Grozeva, D.; Spinelli, E.; McTague, A.; Sanchis-Juan, A.; Carss, K.J.; Bryant, E.; Reich, A.; Schneider, A.L.; Pressler, R.M.; Simpson, M.A.; Debelle, G.D.; Wassmer, E.; Morton, J.; Sieciechowicz, D.; Jan-Kamsteeg, E.; Paciorkowski, A.R.; King, M.D.; Cross, J.H.; et al.
2019Zinc-binding to the cytoplasmic PAS domain regulates the essential WalK histidine kinase of Staphylococcus aureusMonk, I.R.; Shaikh, N.; Begg, S.L.; Gajdiss, M.; Sharkey, L.K.R.; Lee, J.Y.H.; Pidot, S.J.; Seemann, T.; Kuiper, M.; Winnen, B.; Hvorup, R.; Collins, B.M.; Bierbaum, G.; Udagedara, S.R.; Morey, J.R.; Pulyani, N.; Howden, B.P.; Maher, M.J.; McDevitt, C.A.; King, G.F.; et al.
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.
2019Genomic subtyping and therapeutic targeting of acute erythroleukemiaIacobucci, I.; Wen, J.; Meggendorfer, M.; Choi, J.K.; Shi, L.; Pounds, S.B.; Carmichael, C.L.; Masih, K.E.; Morris, S.M.; Lindsley, R.C.; Janke, L.J.; Alexander, T.B.; Song, G.; Qu, C.; Li, Y.; Payne-Turner, D.; Tomizawa, D.; Kiyokawa, N.; Valentine, M.; Valentine, V.; et al.
2019Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2Catford, S.R.; O'Bryan, M.K.; McLachlan, R.I.; Delatycki, M.B.; Rombauts, L.
2019Alternative splicing in a presenilin 2 variant associated with Alzheimer diseaseBraggin, J.E.; Bucks, S.A.; Course, M.M.; Smith, C.L.; Sopher, B.; Osnis, L.; Shuey, K.D.; Domoto-Reilly, K.; Caso, C.; Kinoshita, C.; Scherpelz, K.P.; Cross, C.; Grabowski, T.; Nik, S.H.M.; Newman, M.; Garden, G.A.; Leverenz, J.B.; Tsuang, D.; Latimer, C.; Gonzalez-Cuyar, L.F.; et al.

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