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Results 1-10 of 49 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2019Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, M.A.; Kroes, T.; Veneziano, L.; Bennett, M.F.; Florian, R.; Schneider, A.L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A.-F.; et al.
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; 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.
2017Developing consensus-based priority outcome domains for trials in kidney transplantation: a multinational Delphi Survey with patients, caregivers, and health professionalsSautenet, B.; Tong, A.; Manera, K.; Chapman, J.; Warrens, A.; Rosenbloom, D.; Wong, G.; Gill, J.; Budde, K.; Rostaing, L.; Marson, L.; Josephson, M.; Reese, P.; Pruett, T.; Hanson, C.; O'Donoghue, D.; Tam-Tham, H.; Halimi, J.; Shen, J.; Kanellis, J.; et al.
2021Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
2017Electrophysiological, cognitive and clinical profiles of at-risk mental state: the longitudinal minds in transition (MinT) studyAtkinson, R.J.; Fulham, W.R.; Michie, P.T.; Ward, P.B.; Todd, J.; Stain, H.; Langdon, R.; Thienel, R.; Paulik, G.; Cooper, G.; Anthes, L.; Bowen, D.; Case, V.; Clark, S.; Collins-Langworthy, J.; Curtis, J.; Ehlkes, T.; Haddow, T.; Lawrence, C.; Logan, S.; et al.; Hashimoto, K.
2018A four-gene lincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patientsBeck, D.; Thoms, J.; Palu, C.; Herold, T.; Shah, A.; Olivier, J.; Boelen, L.; Huang, Y.; Chacon, D.; Brown, A.; Babic, M.; Hahn, C.; Perugini, M.; Zhou, X.; Huntly, B.; Schwarzer, A.; Klusmann, J.-H.; Berdel, W.; Wörmann, B.; Büchner, T.; et al.
2013A phase 2 trial of ponatinib in Philadelphia chromosome-positive leukemiasCortes, J.E.; Kim, D.W.; Pinilla-Ibarz, J.; Le Coutre, P.; Paquette, R.; Chuah, C.; Nicolini, F.E.; Apperley, J.F.; Khoury, H.J.; Talpaz, M.; DiPersio, J.; DeAngelo, D.J.; Abruzzese, E.; Rea, D.; Baccarani, M.; Müller, M.C.; Gambacorti-Passerini, C.; Wong, S.; Lustgarten, S.; Rivera, V.M.; 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.

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