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Issue Date
Title
Author(s)
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.
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.
2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, M.
;
Brooks, S.
;
Stevenson, R.
;
Field, M.
;
Basehore, M.
;
Adès, L.
;
Sebold, C.
;
Mcgee, S.
;
Saxon, S.
;
Skinner, C.
;
Craig, M.
;
Murray, L.
;
Simensen, R.
;
Yap, Y.
;
Shaw, M.
;
Gardner, A.
;
Corbett, M.
;
Kumar, R.
;
Bosshard, M.
;
Van Loon, B.
;
et al.
2013
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E.
;
Rosenfeld, H.
;
Kampmann, C.
;
Johnson, J.
;
Beck, M.
;
Giugliani, R.
;
Guffon, N.
;
Ketteridge, D.
;
Miranda, C.
;
Scarpa, M.
;
Schwartz, I.
;
Teles, E.
;
Wraith, J.
;
Barrios, P.
;
Dias da Silva, E.
;
Kurio, G.
;
Richardson, M.
;
Gildengorin, G.
;
Hopwood, J.
;
Imperiale, M.
;
et al.
2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H.
;
Haas, S.
;
Chelly, J.
;
Van Esch, H.
;
Raynaud, M.
;
De Brouwer, A.
;
Weinert, S.
;
Froyen, G.
;
Frints, S.
;
Laumonnier, F.
;
Zemojtel, T.
;
Love, M.
;
Richard, H.
;
Emde, A.
;
Bienek, M.
;
Jensen, C.
;
Hambrock, M.
;
Fischer, U.
;
Langnick, C.
;
Feldkamp, M.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2012
Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)
Johnston, C.
;
O'Leary, M.
;
Brown, S.
;
Currie, B.
;
Halkidis, L.
;
Whitaker, R.
;
Close, B.
;
Isbister, G.
;
Nagree, Y.
;
Ker, F.
;
Greene, S.
;
Taylor, M.
;
Macrokanis, C.
;
Wilke, G.
;
Coulson, A.
;
Barnes, C.
;
Bonni, R.
;
Whitake, R.
;
Halkidis, L.
;
Isbiste, G.
;
et al.
;
de Silva, J.
2015
TIDEL-II: first-line use of imatinib in CML with early switch to nilotinib for failure to achieve time-dependent molecular targets
Yeung, D.
;
Osborn, M.
;
White, D.
;
Branford, S.
;
Braley, J.
;
Herschtal, A.
;
Kornhauser, M.
;
Issa, S.
;
Hiwase, D.
;
Hertzberg, M.
;
Schwarer, A.
;
Filshie, R.
;
Arthur, C.
;
Kwan, Y.
;
Trotman, J.
;
Forsyth, C.
;
Taper, J.
;
Ross, D.
;
Beresford, J.
;
Tam, C.
;
et al.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
2012
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Kazenwadel, J.
;
Secker, G.
;
Liu, Y.
;
Rosenfeld, J.
;
Wildin, R.
;
Cuellar-Rodriguez, J.
;
Hsu, A.
;
Dyack, S.
;
Fernandez, C.
;
Chong, C.
;
Babic, M.
;
Bardy, P.
;
Shimamura, A.
;
Zhang, M.
;
Walsh, T.
;
Holland, S.
;
Hickstein, D.
;
Horwitz, M.
;
Hahn, C.
;
Scott, H.
;
et al.
Discover
Author
5
Vos, T.
3
Aboyans, V.
3
Anderson, H.
3
Andrews, K.
3
Flaxman, A.
3
Naghavi, M.
3
Shibuya, K.
2
Abdalla, S.
2
Abraham, J.
2
Ackerman, I.
.
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Young Adult
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11
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Child, Preschool
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5
Infant, Newborn
4
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