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Issue Date
Title
Author(s)
2002
Location and structure of the human FHR-5 gene
McRae, J.
;
Murphy, B.
;
Eyre, H.
;
Sutherland, G.
;
Crawford, J.
;
Cowan, P.
2000
Cloning, expression and chromosomal localization of a novel human dipeptidyl peptidase (DDP) IV homolog, DPP8
Abbott, C.
;
Yu, D.
;
Woollatt, E.
;
Sutherland, G.
;
McCaughan, G.
;
Gorrell, M.
2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, M.
;
Berkovic, S.
;
Dibbens, L.
;
Oliver, K.
;
Maljevic, S.
;
Bayly, M.
;
Joensuu, T.
;
Canafoglia, L.
;
Franceschetti, S.
;
Michelucci, R.
;
Markkinen, S.
;
Heron, S.
;
Hildebrand, M.
;
Andermann, E.
;
Andermann, F.
;
Gambardella, A.
;
Tinuper, P.
;
Licchetta, L.
;
Scheffer, I.
;
Criscuolo, C.
;
et al.
1995
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase
Bielicki, J.
;
Fuller, M.
;
Guo, X.H.
;
Morris, C.
;
Hopwood, J.
;
Anson, D.
1995
Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation
Hunt, C.
;
Eyre, H.
;
Akkari, P.
;
Meredith, C.
;
Dorosz, S.
;
Wilton, S.
;
Callen, D.
;
Laing, N.
;
Baker, E.
1995
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein
Brooks, D.
;
Robertson, D.
;
Bindloss, C.
;
Litjens, T.
;
Anson, D.
;
Peters, C.
;
Morris, C.
;
Hopwood, J.
2001
HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers
Young, J.
;
Biden, K.
;
Simms, L.
;
Huggard, P.
;
Karamatic, R.
;
Eyre, H.
;
Sutherland, G.
;
Herath, N.
;
Barker, M.
;
Anderson, G.
;
Fitzpatrick, D.
;
Ramm, G.
;
Jass, J.
;
Leggett, B.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, B.
;
Witherspoon, K.
;
Rosenfeld, J.
;
van Bon, B.
;
Vulto-van Silfhout, A.
;
Bosco, P.
;
Friend, K.
;
Baker, C.
;
Buono, S.
;
Vissers, L.
;
Schuurs-Hoeijmakers, J.
;
Hoischen, A.
;
Pfundt, R.
;
Krumm, N.
;
Carvill, G.
;
Li, D.
;
Amaral, D.
;
Brown, N.
;
Lockhart, P.
;
Scheffer, I.
;
et al.
2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
Wieland, I.
;
Reardon, W.
;
Jakubiczka, S.
;
Franco, B.
;
Kress, W.
;
Vincent-Delorme, C.
;
Theirry, P.
;
Edwards, M.
;
Konig, R.
;
Rusu, C.
;
Schweiger, S.
;
Thompson, E.
;
Tinschert, S.
;
Stewart, F.
;
Wieacker, P.
Discover
Author
59
Sutherland, G.
32
Hopwood, J.
26
Gecz, J.
24
Eyre, H.
22
Baker, E.
16
et al.
12
Haan, E.
10
Woollatt, E.
9
Callen, D.
9
Ropers, H.
.
next >
Subject
138
Humans
92
Base Sequence
84
Amino Acid Sequence
72
Animals
54
Male
48
Chromosome Mapping
42
Female
38
Mice
37
Cloning, Molecular
36
Sequence Homology, Amino Acid
.
next >
Date issued
12
2010 - 2015
58
2000 - 2009
83
1994 - 1999