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Results 31-40 of 56 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1995
Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndrome
Ludecke, H.J.
;
Wagner, M.
;
Nardmann, J.
;
La Pillo, B.
;
Parrish, J.
;
Willems, P.
;
Sutherland, G.
1997
Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat
Yu, S.
;
Mangelsdorf, M.
;
Hewett, D.
;
Hobson, L.
;
Baker, E.
;
Eyre, H.
;
Lapsys, N.
;
Le Paslier, D.
;
Doggett, N.
;
Sutherland, G.
;
Richards, R.
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.
1996
Positional cloning of the Fanconi anaemia group A gene
Apostolou, S.
;
Whitmore, S.
;
Crawford, J.
;
Lennon, G.
;
Sutherland, G.
;
Callen, D.
;
Ianzano, L.
;
Savino, M.
;
d'Apolito, M.
;
Notarangelo, A.
;
Memeo, E.
;
Piemontese, M.
;
Zelante, L.
;
Savoia, A.
;
Gibson, R.
;
Tipping, A.
;
Morgan, N.
;
Hassock, S.
;
Jansen, S.
;
de Ravel, T.
;
et al.
1995
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
Scott, H.
;
Blanch, L.
;
Guo, X.H.
;
Freeman, C.
;
Orsborn, A.
;
Baker, E.
;
Sutherland, G.
;
Morris, C.
;
Hopwood, J.
1998
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis
Hewett, D.
;
Handt, O.
;
Hobson, L.
;
Mangelsdorf, M.
;
Eyre, H.
;
Baker, E.
;
Sutherland, G.
;
Schuffenhauer, S.
;
Mao, J.I.
;
Richards, R.
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.
1999
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
Weber, B.
;
Guo, X.H.
;
Kleijer, W.
;
van de Kamp, J.
;
Poorthuis, B.
;
Hopwood, 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.
Discover
Author
35
Sutherland, G.
13
Baker, E.
12
Eyre, H.
10
Hopwood, J.
8
Callen, D.
7
Haan, E.
6
Nicholl, J.
4
Crawford, J.
4
Guo, X.H.
4
Richards, R.
.
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Subject
52
Molecular Sequence Data
29
Chromosome Mapping
28
Animals
27
Amino Acid Sequence
22
DNA Primers
21
Cloning, Molecular
19
DNA, Complementary
17
In Situ Hybridization, Fluorescence
17
Male
17
Polymerase Chain Reaction
.
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Date issued
9
1999
5
1998
8
1997
12
1996
21
1995
1
1994