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Issue Date
Title
Author(s)
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.
2000
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
Villard, L.
;
Fontes, M.
;
Ades, L.
;
Gecz, 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.
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.
2009
In Vitro Differentiation of Human Calvarial Suture Derived Cells With and Without Dexamethasione Does Not Induce In Vivo-Like Expression
Coussens, A.
;
Hughes, I.
;
Morris, C.
;
Powell, B.
;
Anderson, P.
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
Discover
Author
46
Sutherland, G.
20
Eyre, H.
19
Hopwood, J.
18
Gecz, J.
16
Baker, E.
12
Haan, E.
10
et al.
8
Callen, D.
7
Anson, D.
7
Crawford, J.
.
next >
Subject
96
Humans
92
Molecular Sequence Data
52
Animals
47
Amino Acid Sequence
40
Male
37
Chromosome Mapping
30
Cloning, Molecular
29
DNA Primers
28
DNA, Complementary
28
Female
.
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2010 - 2015
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2000 - 2009
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1994 - 1999