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Results 11-20 of 138 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2001
Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for Australia
Goldwater, P.
2017
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
Hughes, J.
;
Dawson, R.
;
Tea, M.
;
McAninch, D.
;
Piltz, S.
;
Jackson, D.
;
Stewart, L.
;
Ricos, M.
;
Dibbens, L.
;
Harvey, N.
;
Thomas, P.
1998
Identification of a common mutation (R245h) in Sanfilippo A patients from the Netherlands
Weber, B.
;
Vandekamp, J.
;
Kleijer, W.
;
Guo, X.H.
;
Blanch, L.
;
van Diggelen, O.
;
Wevers, R.
;
Poorthuis, B.
;
Hopwood, J.
1998
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype
Yamada, N.
;
Fukuda, S.
;
Tomatsu, S.
;
Muller, V.
;
Hopwood, J.
;
Nelson, J.
;
Kato, Z.
;
Yamagishi, A.
;
Sukegawa, K.
;
Kondo, M.
;
Orii, T.
1997
Mutations among Italian mucopolysaccharidosis Type I patients
Gatti, R.
;
Di Natale, P.
;
Villani, G.
;
Filocamo, M.
;
Muller, V.
;
Guo, X.H.
;
Nelson, P.
;
Scott, H.
;
Hopwood, J.
2008
Evaluating DNA sequence variants of unknown biological significance
Grist, S.
;
Dubowsky, A.
;
Suthers, G.
;
Trent, R.
2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
Stepp, M.
;
Cason, A.
;
Finnis, M.
;
Mangelsdorf, M.
;
Holinski-Feder, E.
;
Macgregor, D.
;
MacMillan, A.
;
Holden, J.
;
Gecz, J.
;
Stevenson, R.
;
Schwartz, C.
2004
The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
Gecz, J.
2012
CDP-diacylglycerol synthetase-controlled phosphoinositide availability limits VEGFA signaling and vascular morphogenesis
Pan, W.
;
Pham, V.
;
Stratman, A.
;
Castranova, D.
;
Kamei, M.
;
Kidd, K.
;
Lo, B.
;
Shaw, K.
;
Torres-Vazquez, J.
;
Mikelis, C.
;
Gutkind, J.
;
Davis, G.
;
Weinstein, B.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
Discover
Author
47
Gecz, J.
30
Hopwood, J.
27
et al.
13
Haan, E.
13
Scheffer, I.
12
Berkovic, S.
10
Mulley, J.
9
Brooks, D.
9
Dibbens, L.
9
Weber, B.
.
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Subject
132
Humans
78
Male
67
Female
43
Animals
35
Adult
35
Pedigree
34
Phenotype
33
Child
28
Molecular Sequence Data
27
Child, Preschool
.
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Date issued
39
2010 - 2018
78
2000 - 2009
21
1995 - 1999