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Results 1-10 of 25 (Search time: 0.004 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.
2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
Wieland, I.
;
Reardon, W.
;
Jakubiczka, S.
;
Franco, B.
;
Kress, W.
;
Vincent-Delorme, C.
;
Theirry, P.
;
Edwards, M.
;
Konig, R.
;
Rusu, C.
;
Schweiger, S.
;
Thompson, E.
;
Tinschert, S.
;
Stewart, F.
;
Wieacker, P.
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.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, 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.
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.
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.
Discover
Author
9
Gecz, J.
6
Sutherland, G.
4
et al.
3
Baker, E.
3
Berkovic, S.
3
Crawford, J.
3
Eyre, H.
3
Haan, E.
3
Scheffer, I.
3
Tarpey, P.
.
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Subject
25
Humans
22
Molecular Sequence Data
21
Male
14
Pedigree
13
Animals
13
Base Sequence
12
Mutation
10
Sequence Homology, Amino Acid
7
Chromosome Mapping
7
Mice
.
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Date issued
6
2010 - 2015
12
2000 - 2009
7
1995 - 1999