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Results 1-10 of 37 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Corbett, 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.
2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, 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.
2019
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
Gorman, 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.
2021
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer
Singhal, 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.
2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, 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.
2017
Electrophysiological, cognitive and clinical profiles of at-risk mental state: the longitudinal minds in transition (MinT) study
Atkinson, 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.
2018
A four-gene lincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients
Beck, 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.
2013
A phase 2 trial of ponatinib in Philadelphia chromosome-positive leukemias
Cortes, 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.
2019
Chromosomal abnormalities and prognosis in NPM1-mutated acute myeloid leukemia: a pooled analysis of individual patient data from nine international cohorts
Angenendt, 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.
2019
Genomic subtyping and therapeutic targeting of acute erythroleukemia
Iacobucci, 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.
Discover
Author
3
Babic, M.
3
Branford, S.
2
Baccarani, M.
2
Barrett, H.
2
Baskerville, T.
2
Braley, J.
2
Couper, J.
2
Donaghue, K.
2
Feng, J.
2
Forbes, J.M.
.
next >
Subject
8
Aged, 80 and over
8
Mutation
8
Prognosis
6
Infant
6
Risk Factors
5
Australia
5
Genetic Predisposition to Disease
5
Pedigree
4
Leukemia, Myelogenous, Chronic, B...
4
Treatment Outcome
.
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Date issued
10
2020 - 2022
25
2010 - 2019
2
2003 - 2009