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Results 21-30 of 45 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
2001
Glycosidase active site mutations in human a-L-iduronidase
Brooks, D.
;
Fabrega, S.
;
Hein, L.
;
Parkinson, E.
;
Durand, P.
;
Yogalingam, G.
;
Matte, U.
;
Giugliani, R.
;
Dasvarma, A.
;
Eslahpazire, J.
;
Henrissat, B.
;
Mornon, J.
;
Hopwood, J.
;
Lehn, P.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2001
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
Bhattacharyya, R.
;
Gliddon, B.
;
Beccari, T.
;
Hopwood, J.
;
Stanley, P.
2004
Overlapping motifs in the membrane-proximal region of cytokine receptor accessory and signaling subunits
D'Andrea, R.
;
Sadlon, T.
;
Gonda, T.
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.
2002
α-Mannosidosis in the guinea pig: cloning of the lysosomal α-mannosidase cDNA and identification of a missense mutation causing α-mannosidosis
Berg, T.
;
Hopwood, J.
2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
Shoubridge, C.
;
Cloosterman, D.
;
Parkinson-Lawrence, E.
;
Brooks, D.
;
Gecz, J.
2002
Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation
Glaros, E.
;
Turner, C.
;
Parkinson, E.
;
Hopwood, J.
;
Brooks, D.
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.
Discover
Author
22
Sutherland, G.
9
Hopwood, J.
7
Baker, E.
7
Eyre, H.
7
Gecz, J.
4
Nicholl, J.
4
Woollatt, E.
3
Brooks, D.
3
Copeland, N.
3
Crawford, J.
.
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Subject
41
Humans
41
Molecular Sequence Data
26
Base Sequence
24
Mice
20
Sequence Homology, Amino Acid
19
Chromosome Mapping
18
Cloning, Molecular
18
DNA, Complementary
16
Male
13
Female
.
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Date issued
5
2010 - 2015
16
2000 - 2009
24
1994 - 1999