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Results 11-20 of 49 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, 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.
1997
Activating mutations in cytokine receptors: implications for receptor function and role in disease.
Gonda, T.
;
D'Andrea, R.
1995
Lipopolysaccharide with an altered O-antigen produced in Escherichia coli K-12 harbouring mutated, cloned Shigella flexneri rfb genes
Morona, R.
;
Macpherson, D.
;
Van Den Bosch, L.
;
Carlin, N.
;
Manning, P.
1997
Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)
Bunge, S.
;
Ince, H.
;
Steglich, C.
;
Kleijer, W.
;
Beck, M.
;
Zaremba, J.
;
van Diggelen, O.
;
Weber, B.
;
Hopwood, J.
;
Gal, A.
1994
Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis
PĂ©rez Jurado, L.
;
Phillips, J.
;
Francke, U.
1999
Penicillin tolerance in Streptococcus pneumoniae, autolysis and the Psa ATP-binding cassette (ABC) manganese permease
Claverys, J.P.
;
Granadel, C.
;
Berry, A.M.
;
Paton, J.C.
1998
Analysis of a Drosophila cyclin E hypomorphic mutation suggests a novel role for Cyclin E in cell proliferation control during eye imaginal disc development.
Secombe, J.
;
Pispa, J.
;
Saint, R.
;
Richardson, H.
1998
Casein kinase 2 phosphorylation of recombinant rat osteopontin enhances adhesion of osteoclasts but not osteoblasts
Katayama, Y.
;
House, C.
;
Udagawa, N.
;
Kazama, J.
;
McFarland, R.
;
Martin, T.
;
Findlay, D.
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Author
12
Hopwood, J.
7
Sutherland, G.
6
Richards, R.
6
Weber, B.
5
Mulley, J.
4
Guo, X.H.
4
Haan, E.
4
Kleijer, W.
3
Bunge, S.
3
Kelly, J.
.
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Subject
37
Humans
17
Male
17
Molecular Sequence Data
16
Female
14
Base Sequence
13
Animals
11
Alleles
11
Amino Acid Sequence
11
Phenotype
9
Polymerase Chain Reaction
.
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Date issued
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1999
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