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Results 1-10 of 43 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
1995
Fragile X syndrome and other dynamic mutation diseases
Sutherland, G.
;
Richards, R.
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
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.
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.
2013
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Buchovecky, C.
;
Turley, S.
;
Brown, H.
;
Kyle, S.
;
McDonald, J.
;
Liu, B.
;
Pieper, A.
;
Huang, W.
;
Katz, D.
;
Russell, D.
;
Shendure, J.
;
Justice, M.
2004
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A
Muschol, N.
;
Storch, S.
;
Balhausen, D.
;
Beesley, C.
;
Westermann, J.
;
Gal, A.
;
Ullrich, K.
;
Hopwood, J.
;
Winchester, B.
;
Braulke, T.
2004
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
Colombo, E.
;
Galli, R.
;
Cossu, G.
;
Gecz, J.
;
Broccoli, V.
2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Litjens, T.
;
Hopwood, J.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
Discover
Author
17
Gecz, J.
15
Hopwood, J.
7
Yogalingam, G.
6
Brooks, D.
5
et al.
5
Shoubridge, C.
4
Jolly, L.
4
Kalscheuer, V.
3
Beesley, C.
3
Crawley, A.
.
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Subject
38
Humans
19
Male
18
Mice
17
Female
14
Phenotype
12
Molecular Sequence Data
11
Pedigree
10
Intellectual Disability
9
Amino Acid Sequence
9
Base Sequence
.
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Date issued
14
2010 - 2018
25
2000 - 2009
4
1995 - 1999