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Results 21-30 of 45 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1995
Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A.
;
Slaney, S.
;
Oldridge, M.
;
Poole, M.
;
Ashworth, G.
;
Hockley, A.
;
Hayward, R.
;
David, D.
;
Pulleyn, L.
;
Rutland, P.
;
Malcolm, S.
;
Winter, R.
;
Reardon, W.
1997
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
D'Adamo, P.
;
Fassone, L.
;
Gedeon, A.
;
Janssen, E.
;
Bione, S.
;
Bolhuis, P.
;
Barth, P.
;
Wilson, M.
;
Haan, E.
;
Orstavik, H.
;
Patton, M.
;
Green, A.
;
Zammarchi, E.
;
Donati, M.
;
Toniolo, D.
1997
FMR2 expression in families with FRAXE mental retardation
Gecz, J.
;
Oostra, B.
;
Hockey, A.
;
Carbonell, P.
;
Turner, G.
;
Haan, E.
;
Sutherland, G.
;
Mulley, J.
1995
Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus
Nancarrow, J.
;
Holman, K.
;
Hori, T.
;
Denton, M.
;
Sutherland, G.
;
Richards, R.
1997
AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location
Stapleton, D.
;
Woollatt, E.
;
Mitchelhill, K.
;
Nicholl, J.
;
Fernandez, C.
;
Michell, B.
;
Witters, L.
;
Power, D.
;
Sutherland, G.
;
Kemp, B.
1999
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott, M.
;
Aksentijevich, I.
;
Galon, J.
;
McDermott, E.
;
Ogunkolade, B.
;
Centola, M.
;
Mansfield, E.
;
Gadina, M.
;
Karenko, L.
;
Petterson, T.
;
McCarthy, J.
;
Frucht, D.
;
Aringer, M.
;
Torosyan, Y.
;
Teppo, A.M.
;
Wilson, M.
;
Karaarslan, H.
;
Wan, Y.
;
Todd, I.
;
Wood, G.
;
et al.
1995
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Laing, N.
;
Wilton, S.
;
Akkari, P.
;
Dorosz, S.
;
Boundy, K.
;
Kneebone, C.
;
Blumbergs, P.
;
White, S.
;
Watkins, H.
;
Love, D.
;
Haan, E.
1995
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
Jones, C.
;
Penny, L.
;
Mattina, T.
;
Yu, S.
;
Baker, E.
;
Voullaire, L.
;
Langdon, W.
;
Sutherland, G.
;
Richards, R.
;
Tunnacliffe, A.
1996
A novel X-linked gene, G4.5. is responsible for Barth Syndrome
Bione, S.
;
D'Adamo, P.
;
Maestrini, E.
;
Gedeon, A.
;
Bolhuis, P.
;
Toniolo, D.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
Discover
Author
20
Sutherland, G.
8
Baker, E.
8
Mulley, J.
6
Eyre, H.
5
Haan, E.
5
Richards, R.
4
Callen, D.
4
Gecz, J.
4
Gedeon, A.
4
Woollatt, E.
.
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Subject
28
Base Sequence
25
Amino Acid Sequence
22
Animals
22
Female
21
Chromosome Mapping
16
Sequence Homology, Amino Acid
13
Pedigree
12
Mice
11
DNA Primers
10
Cloning, Molecular
.
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Date issued
6
1999
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1998
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1997
9
1996
13
1995