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Results 1-10 of 22 (Search time: 0.003 seconds).
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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.
1998
Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3
Centola, M.
;
Chen, X.
;
Sood, R.
;
Deng, Z.
;
Aksentijevich, I.
;
Blake, T.
;
Ricke, D.
;
Chen, X.
;
Wood, G.
;
Zaks, N.
;
Richards, N.
;
Krizman, D.
;
Mansfield, E.
;
Apostolou, S.
;
Liu, J.
;
Shafran, N.
;
Vedula, A.
;
Hamon, M.
;
Cercek, A.
;
Kahan, T.
;
et al.
2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Tarpey, P.
;
Raymond, F.
;
Nguyen, L.
;
Rodriguez, J.
;
Hackett, A.
;
Vandeleur, L.
;
Smith, R.
;
Shoubridge, C.
;
Edkins, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Hills, K.
;
Jones, D.
;
Mironenko, T.
;
Perry, J.
;
et al.
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
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.
2017
Insights into the evolution of hydroxyproline-rich glycoproteins from 1000 plant transcriptomes
Johnson, K.
;
Cassin, A.
;
Lonsdale, A.
;
Wong, G.-S.
;
Soltis, D.
;
Miles, N.
;
Melkonian, M.
;
Melkonian, B.
;
Deyholos, M.
;
Leebens-Mack, J.
;
Rothfels, C.
;
Stevenson, D.
;
Graham, S.
;
Wang, X.
;
Wu, S.
;
Pires, J.
;
Edger, P.
;
Carpenter, E.
;
Bacic, A.
;
Doblin, M.
;
et al.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
2013
Distinctive expansion of potential virulence genes in the genome of the oomycete fish pathogen Saprolegnia parasitica
Jiang, R.
;
de Bruijn, I.
;
Haas, B.
;
Belmonte, R.
;
Löbach, L.
;
Christie, J.
;
van den Ackerveken, G.
;
Bottin, A.
;
Bulone, V.
;
Díaz-Moreno, S.
;
Dumas, B.
;
Fan, L.
;
Gaulin, E.
;
Govers, F.
;
Grenville-Briggs, L.
;
Horner, N.
;
Levin, J.
;
Mammella, M.
;
Meijer, H.
;
Morris, P.
;
et al.
;
McDowell, J.
2010
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
Pearlman, A.
;
Loke, J.
;
Le Caignec, C.
;
White, S.
;
Chin, L.
;
Friedman, A.
;
Warr, N.
;
Willan, J.
;
Brauer, D.
;
Farmer, C.
;
Brooks, E.
;
Oddoux, C.
;
Riley, B.
;
Shajahan, S.
;
Camerino, G.
;
Homfray, T.
;
Crosby, A.
;
Couper, J.
;
David, A.
;
Greenfield, A.
;
et al.
2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield, M.
;
Baris, H.
;
Wu, C.
;
Rudolph, G.
;
van Maldergem, L.
;
He, W.
;
Chan, W.
;
Andrews, C.
;
Demer, J.
;
Robertson, R.
;
Mackey, D.
;
Ruddle, J.
;
Bird, T.
;
Gottlob, I.
;
Pieh, C.
;
Traboulsi, E.
;
Pomeroy, S.
;
Hunter, D.
;
Soul, J.
;
Newlin, A.
;
et al.
Discover
Author
3
Aksentijevich, I.
3
Barthorpe, S.
3
Buck, G.
3
Centola, M.
3
Cole, J.
3
Edkins, S.
3
Gecz, J.
3
Hills, K.
3
Jones, D.
3
Mansfield, E.
.
next >
Subject
18
Humans
17
Molecular Sequence Data
12
Male
11
Female
11
Mutation
11
Pedigree
8
Animals
7
Base Sequence
6
Sequence Homology, Amino Acid
5
Mutation, Missense
.
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Date issued
10
2010 - 2017
8
2000 - 2009
4
1996 - 1999