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Issue Date
Title
Author(s)
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2001
Impaired thrombin generation in b2-glycoprotein I null mice
Sheng, Y.
;
Reddel, S.
;
Herzog, H.
;
Wang, Y.
;
Brighton, T.
;
France, M.
;
Robertson, S.
;
Krilis, S.
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2008
Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype
English, D.
;
Young, J.
;
Simpson, J.
;
Jenkins, M.
;
Southey, M.
;
Walsh, M.
;
Buchanan, D.
;
Barker, M.
;
Haydon, A.
;
Royce, S.
;
Roberts, A.
;
Parry, S.
;
Hopper, J.
;
Jass, J.
;
Giles, G.
1998
Analysis of a Drosophila cyclin E hypomorphic mutation suggests a novel role for Cyclin E in cell proliferation control during eye imaginal disc development.
Secombe, J.
;
Pispa, J.
;
Saint, R.
;
Richardson, H.
2012
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Weckhuysen, S.
;
Mandelstam, S.
;
Suls, A.
;
Audenaert, D.
;
Deconinck, T.
;
Claes, L.
;
Deprez, L.
;
Smets, K.
;
Hristova, D.
;
Yordanova, I.
;
Jordanova, A.
;
Ceulemans, B.
;
Jansen, A.
;
Hasaerts, D.
;
Roelens, F.
;
Lagae, L.
;
Yendle, S.
;
Stanley, T.
;
Heron, S.
;
Mulley, J.
;
et al.
2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium
de Brouwer, A.
;
Yntema, H.
;
Kleefstra, T.
;
Lugtenberg, D.
;
Oudakker, A.
;
de Vries, B.
;
van Bokhoven, H.
;
Van Esch, H.
;
Frints, S.
;
Froyen, G.
;
Fryns, J.
;
Raynaud, M.
;
Moizard, M.
;
Ronce, N.
;
Bensalem, A.
;
Moraine, C.
;
Poirier, K.
;
Castelnau, L.
;
Saillour, Y.
;
Bienvenu, T.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, C.
;
Scheffer, I.
;
Crossland, K.
;
Grinton, B.
;
Phillips, F.
;
McMahon, J.
;
Turner, S.
;
Dean, J.
;
Kivity, S.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Harkin, L.
;
Dibbens, L.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
Discover
Author
7
et al.
6
Berkovic, S.
6
Gecz, J.
6
Mulley, J.
6
Scheffer, I.
4
Harkin, L.
3
Dibbens, L.
3
Jolly, L.
3
McMahon, J.
2
Crawley, A.
.
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Subject
23
Male
18
Humans
11
Animals
8
Pedigree
6
Child
6
Mice
5
Adult
5
Intellectual Disability
5
Nerve Tissue Proteins
5
Sodium Channels
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1998 - 1999