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Results 1-10 of 28 (Search time: 0.002 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.
1996
bcl-w, a novel member of the bcl-2 family, promotes cell survival
Gibson, L.
;
Holmgreen, S.
;
Huang, D.
;
Bernand, O.
;
Copeland, N.
;
Jenkins, N.
;
Sutherland, G.
;
Baker, E.
;
Adams, J.
;
Cory, S.
2000
Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor family
Parker, R.
;
Copeland, N.
;
Eyre, H.
;
Liu, M.
;
Gilbert, D.
;
Crawford, J.
;
Couzens, M.
;
Sutherland, G.
;
Jenkins, N.
;
Herzog, H.
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.
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.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
1995
The CEPH consortium linkage map of human chromosome 16
Kozman, H.
;
Keith, T.
;
Donis-Keller, H.
;
White, R.
;
Weissenbach, J.
;
Sutherland, G.
1996
Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)
Gibson, M.
;
Hatzinikolas, G.
;
Kumaratilake, J.
;
Sandberg, L.
;
Nicholl, J.
;
Sutherland, G.
;
Cleary, E.
2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
Tarpey, P.
;
Parnau, J.
;
Blow, M.
;
Woffendin, H.
;
Bignell, G.
;
Cox, C.
;
Cox, J.
;
Davies, H.
;
Edkins, S.
;
Holden, S.
;
Korny, A.
;
Mallya, U.
;
Moon, J.
;
O'Meara, S.
;
Parker, A.
;
Stephens, P.
;
Stevens, C.
;
Teague, J.
;
Donnelly, A.
;
Mangelsdorf, M.
;
et al.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
Discover
Author
10
Sutherland, G.
9
Gecz, J.
7
Haan, E.
5
et al.
3
Baker, E.
3
Crawford, J.
3
Eyre, H.
3
Scheffer, I.
3
Tarpey, P.
2
Berkovic, S.
.
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Subject
28
Humans
26
Molecular Sequence Data
22
Male
13
Amino Acid Sequence
12
Pedigree
10
Animals
9
Chromosome Mapping
7
DNA Mutational Analysis
7
Mutation
7
Sequence Homology, Amino Acid
.
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Date issued
4
2010 - 2014
12
2000 - 2009
12
1995 - 1999