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Issue Date
Title
Author(s)
1995
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase
Bielicki, J.
;
Fuller, M.
;
Guo, X.H.
;
Morris, C.
;
Hopwood, J.
;
Anson, D.
1995
Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation
Hunt, C.
;
Eyre, H.
;
Akkari, P.
;
Meredith, C.
;
Dorosz, S.
;
Wilton, S.
;
Callen, D.
;
Laing, N.
;
Baker, E.
1995
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein
Brooks, D.
;
Robertson, D.
;
Bindloss, C.
;
Litjens, T.
;
Anson, D.
;
Peters, C.
;
Morris, C.
;
Hopwood, J.
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.
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.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2000
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping
Costanzi, E.
;
Beccari, T.
;
Stinchi, S.
;
Bibi, L.
;
Hopwood, J.
;
Orlacchio, A.
2011
Gaucher disease in sheep
Karageorgos, L.
;
Lancaster, M.
;
Nimmo, J.
;
Hopwood, J.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
Discover
Author
29
Sutherland, G.
21
Hopwood, J.
11
Baker, E.
11
Eyre, H.
10
Gecz, J.
6
Anson, D.
5
Brooks, D.
5
Nicholl, J.
4
Callen, D.
4
Woollatt, E.
.
next >
Subject
59
Humans
45
Base Sequence
41
Amino Acid Sequence
38
Mice
26
Chromosome Mapping
23
Male
22
DNA, Complementary
19
Sequence Homology, Amino Acid
18
Cloning, Molecular
15
DNA Primers
.
next >
Date issued
5
2010 - 2012
23
2000 - 2009
44
1994 - 1999