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Results 1-10 of 14 (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
Child Health CheckPoint: cohort summary and methodology of a physical health and biospecimen module for the Longitudinal Study of Australian Children
Clifford, S.A.
;
Davies, S.
;
Wake, M.
;
Azzopardi, P.S.
;
Baur, L.A.
;
Burgner, D.P.
;
Carlin, J.B.
;
Cheung, M.
;
Dwyer, T.
;
Edwards, B.
;
Ellul, S.
;
Gillespie, A.N.
;
Gold, L.
;
Grobler, A.C.
;
Kerr, J.A.
;
Lycett, K.
;
Lange, K.
;
Mensah, F.K.
;
Olds, T.S.
;
Ranganathan, S.
;
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.
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.
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.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
2012
A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010
Lim, S.
;
Vos, T.
;
Flaxman, A.
;
Danaei, G.
;
Shibuya, K.
;
Adair-Rohani, H.
;
AlMazroa, M.
;
Amann, M.
;
Anderson, H.
;
Andrews, K.
;
Aryee, M.
;
Atkinson, C.
;
Bacchus, L.
;
Bahalim, A.
;
Balakrishnan, K.
;
Balmes, J.
;
Barker-Collo, S.
;
Baxter, A.
;
Bell, M.
;
Blore, J.
;
et al.
2012
Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010
Murray, C.
;
Vos, T.
;
Lozano, R.
;
Naghavi, M.
;
Flaxman, A.
;
Michaud, C.
;
Ezzati, M.
;
Shibuya, K.
;
Salomon, J.
;
Abdalla, S.
;
Aboyans, V.
;
Abraham, J.
;
Ackerman, I.
;
Aggarwal, R.
;
Ahn, S.
;
Ali, M.
;
Alvarado, M.
;
Anderson, H.
;
Anderson, L.
;
Andrews, K.
;
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.
.
next >
Subject
6
Aged
6
Infant, Newborn
4
Aged, 80 and over
4
Global Health
4
Mutation
4
Pedigree
3
Age Factors
3
Animals
3
Intellectual Disability
3
Phenotype
.
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1
2007 - 2009