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Results 1-7 of 7 (Search time: 0.002 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.
2008
Evaluating DNA sequence variants of unknown biological significance
Grist, S.
;
Dubowsky, A.
;
Suthers, G.
;
Trent, R.
2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Froyen, G.
;
Corbett, M.
;
Vandewalle, J.
;
Jarvela, I.
;
Lawrence, O.
;
Meldrum, C.
;
Bauters, M.
;
Govaerts, K.
;
Vandeleur, L.
;
Van Esch, H.
;
Chelly, J.
;
Sanlaville, D.
;
van Bokhoven, H.
;
Ropers, H.
;
Laumonnier, F.
;
Ranieri, E.
;
Schwartz, C.
;
Abidi, F.
;
Tarpey, P.
;
Futreal, P.
;
et al.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
et al.
2008
Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene
Garrido, E.
;
Cormand, B.
;
Hopwood, J.
;
Chabas, A.
;
Grinberg, D.
;
Vilageliu, L.
2008
Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel pore
Hoda, J.
;
Gu, W.
;
Friedli, M.
;
Phillips, H.
;
Bertrand, S.
;
Antonarakis, S.
;
Goudie, D.
;
Roberts, R.
;
Scheffer, I.
;
Marini, C.
;
Patel, J.
;
Berkovic, S.
;
Mulley, J.
;
Steinlein, O.
;
Bertrand, D.
Discover
Author
3
Futreal, P.
3
Tarpey, P.
2
Edkins, S.
2
et al.
2
Gecz, J.
2
Stratton, M.
2
Teague, J.
1
Abidi, F.
1
Antonarakis, S.
1
Bauters, M.
.
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Subject
7
Humans
5
DNA Mutational Analysis
4
Male
3
Adult
3
Animals
3
Mental Retardation, X-Linked
3
Molecular Sequence Data
3
Pedigree
2
Amino Acid Substitution
2
Base Sequence
.
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