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Results 21-30 of 47 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1999
Molecular cloning and characterization of a cDNA encoding the human leucocyte vacuolar protein sorting (h1Vps45)
Rajasekariah, P.
;
Eyre, H.
;
Stanley, K.
;
Walls, R.
;
Sutherland, G.
2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
Weaving, L.
;
Christodoulou, J.
;
Williamson, S.
;
Friend, K.
;
McKenzie, O.
;
Archer, H.
;
Evans, J.
;
Clarke, A.
;
Pelka, G.
;
Tam, P.
;
Watson, C.
;
Lahooti, H.
;
Ellaway, C.
;
Bennetts, B.
;
Leonard, H.
;
Gecz, J.
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.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
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.
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.
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.
Discover
Author
26
Sutherland, G.
11
Eyre, H.
8
Hopwood, J.
7
Baker, E.
6
Crawford, J.
6
Gecz, J.
4
et al.
4
Haan, E.
4
Nicholl, J.
3
Berkovic, S.
.
next >
Subject
45
Molecular Sequence Data
42
Humans
26
Animals
24
Cloning, Molecular
21
Chromosome Mapping
21
Sequence Homology, Amino Acid
19
DNA, Complementary
14
Male
14
Mice
14
Sequence Alignment
.
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Date issued
3
2010 - 2015
15
2000 - 2009
29
1994 - 1999