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Results 1-10 of 17 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
1995
Fragile X syndrome and other dynamic mutation diseases
Sutherland, G.
;
Richards, R.
1998
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Donnelly, A.
;
Haan, E.
;
Manson, J.
;
Mulley, J.
1998
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
Phillips, H.
;
Scheffer, I.
;
Crossland, K.
;
Bhatia, K.
;
Fish, D.
;
Marsden, C.
;
Howell, S.
;
Stephenson, J.
;
Tolmie, J.
;
Plazzi, G.
;
Eeg-Olofsson, O.
;
Singh, R.
;
Lopes-Cendes, I.
;
Andermann, E.
;
Berkovic, S.
;
Mulley, J.
1996
Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence
Tilley, W.D.
;
Buchanan, G.
;
Hickey, T.E.
;
Bentel, J.M.
1995
Detection of circulating tumor cells in colorectal cancer by Immunobead-PCR is a sensitive prognostic marker for relapse of disease
Hardingham, J.
;
Kotasek, D.
;
Sage, R.
;
Eaton, M.
;
Pascoe, V.
;
Dobrovic, A.
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.
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.
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.
Discover
Author
4
Hopwood, J.
4
Mulley, J.
3
Haan, E.
3
Muller, V.
2
Colley, A.
2
Gedeon, A.
2
Guo, X.H.
2
Richards, R.
2
Sutherland, G.
1
Ades, L.
.
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Subject
16
Humans
14
Female
7
Molecular Sequence Data
5
Alleles
5
Amino Acid Sequence
5
Base Sequence
5
Child
5
Pedigree
5
X Chromosome
4
Adolescent
.
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Date issued
2
1999
8
1998
2
1997
2
1996
3
1995