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Results 31-40 of 52 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
1995
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Steinlein, O.
;
Mulley, J.
;
Propping, P.
;
Wallace, R.
;
Phillips, H.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
1998
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene
Gibson, M.
;
Ellis, S.
;
Ades, L.
;
Haan, E.
;
Cleary, E.
1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town, M.
;
Jean, G.
;
Cherqui, S.
;
Attard, M.
;
Forestier, L.
;
Whitmore, S.
;
Callen, D.
;
Gribouval, O.
;
Broyer, M.
;
Bates, G.
;
van't Hoff, W.
;
Antignac, C.
1998
Characterization and chromosome location of the gene GSTZ1 encoding the human Zeta class glutathione transferase and maleylacetoacetate isomerase
Blackburn, A.
;
Woollatt, E.
;
Sutherland, G.
;
Board, P.
1996
Characterization and chromosomal localization of the human A2a adenosine receptor gene - ADORA2A
Le, F.
;
Townsend-Nicholson, A.
;
Baker, E.
;
Sutherland, G.
;
Schofield, P.
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
45
Humans
32
Base Sequence
29
Amino Acid Sequence
29
Animals
25
Female
21
Chromosome Mapping
17
Sequence Homology, Amino Acid
13
DNA, Complementary
13
Pedigree
12
DNA Primers
.
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Date issued
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1999
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1996
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1995
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