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Results 1-10 of 15 (Search time: 0.002 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
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.
2019
Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination
Tea, F.
;
Lopez, J.A.
;
Ramanathan, S.
;
Merheb, V.
;
Lee, F.X.Z.
;
Zou, A.
;
Pilli, D.
;
Patrick, E.
;
van der Walt, A.
;
Monif, M.
;
Tantsis, E.M.
;
Yiu, E.M.
;
Vucic, S.
;
Henderson, A.P.D.
;
Fok, A.
;
Fraser, C.L.
;
Lechner-Scott, J.
;
Reddel, S.W.
;
Broadley, S.
;
Barnett, M.H.
;
et al.
2013
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity
Cousminer, D.
;
Berry, D.
;
Timpson, N.
;
Ang, W.
;
Thiering, E.
;
Byrne, E.
;
Taal, H.
;
Huikari, V.
;
Bradfield, J.
;
Kerkhof, M.
;
Groen-Blokhuis, M.
;
Kreiner-Møller, E.
;
Marinelli, M.
;
Holst, C.
;
Leinonen, J.
;
Perry, J.
;
Surakka, I.
;
Kettunen, J.
;
Anttila, V.
;
Kaakinen, M.
;
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
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.
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
4
Vos, T.
3
Anderson, H.
3
Andrews, K.
3
Flaxman, A.
3
Shibuya, K.
2
Abdalla, S.
2
Aboyans, V.
2
Abraham, J.
2
Ackerman, I.
2
Aggarwal, R.
.
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Aged, 80 and over
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