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Results 1-10 of 37 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
2004
Inhibition of generation of cytotoxic T lymphocyte activity by a CCL19/macrophage inflammatory protein (MIP)-3beta antagonist
Pilkington, K.
;
Clark-Lewis, I.
;
McColl, S.
2002
Asparagine hydroxylation of the HIF transactivation domain: A hypoxic switch
Lando, D.
;
Peet, D.
;
Whelan, D.
;
Gorman, J.
;
Whitelaw, M.
2005
Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels
Bennetts, B.
;
Rychkov, G.
;
Ng, H.
;
Morton, C.
;
Stapleton, D.
;
Parker, M.
;
Cromer, B.
2013
The genomic landscape of hypodiploid acute lymphoblastic leukemia
To, L.
2010
The structure of the talin/integrin complex at a lipid bilayer: an NMR and MD simulation study
Kalli, A.
;
Wegener, K.
;
Goult, B.
;
Anthis, N.
;
Campbell, I.
;
Sansom, M.
2013
H-NS plays a role in expression of Acinetobacter baumannii virulence features
Eijkelkamp, B.
;
Stroeher, U.
;
Hassan, K.
;
Elbourne, L.
;
Paulsen, I.
;
Brown, M.
;
Payne, S.M.
2004
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A
Muschol, N.
;
Storch, S.
;
Balhausen, D.
;
Beesley, C.
;
Westermann, J.
;
Gal, A.
;
Ullrich, K.
;
Hopwood, J.
;
Winchester, B.
;
Braulke, T.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2003
Nova regulates GABA(A) receptor gamma 2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer
Dredge, B.
;
Darnell, R.
Discover
Author
13
Gecz, J.
7
et al.
5
Mulley, J.
4
Corbett, M.
3
Burdon, K.
3
Gardner, A.
3
Gedeon, A.
3
Kalscheuer, V.
3
Ropers, H.
3
Shaw, M.
.
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Subject
27
Amino Acid Sequence
21
Mice
14
Female
14
Male
13
Base Sequence
13
Pedigree
8
Cell Line
8
Protein Structure, Tertiary
8
Sequence Homology, Amino Acid
7
Intellectual Disability
.
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Date issued
15
2010 - 2014
20
2000 - 2009
2
1997 - 1999