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Issue Date
Title
Author(s)
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2002
Biochemical and molecular analysis of mucopolysaccharidoses in Turkey
Emre, S.
;
Terzioglu, M.
;
Coskun, T.
;
Tokatli, A.
;
Ozalp, I.
;
Muller, V.
;
Hopwood, J.
2005
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disorders
Gensure, R.
;
Makitie, O.
;
Barclay, C.
;
Chan, C.
;
DePalma, S.
;
Bastepe, M.
;
Abuzahra, H.
;
Couper, R.
;
Mundlos, S.
;
Sillence, D.
;
Kokko, L.
;
Seidman, J.
;
Cole, W.
;
Juppner, H.
2004
Reproductive performance in female ClockΔ19 mutant mice
Kennaway, D.
;
Boden, M.
;
Voultsios, A.
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.
2001
Impaired thrombin generation in b2-glycoprotein I null mice
Sheng, Y.
;
Reddel, S.
;
Herzog, H.
;
Wang, Y.
;
Brighton, T.
;
France, M.
;
Robertson, S.
;
Krilis, S.
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.
Discover
Author
48
Gecz, J.
30
Hopwood, J.
27
et al.
14
Haan, E.
14
Scheffer, I.
13
Berkovic, S.
10
Dibbens, L.
10
Mulley, J.
9
Brooks, D.
9
Weber, B.
.
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Subject
142
Humans
86
Male
83
Female
54
Animals
37
Adult
36
Pedigree
35
Phenotype
33
Child
29
Molecular Sequence Data
27
Child, Preschool
.
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2010 - 2018
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2000 - 2009
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1995 - 1999