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Results 1-6 of 6 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2008
A novel locus for X-linked congenital cataract on Xq24
Craig, J.
;
Friend, K.
;
Gecz, J.
;
Rattray, K.
;
Trotski, M.
;
Mackey, D.
;
Burdon, K.
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
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Jaekle Santos, L.
;
Xing, C.
;
Barnes, R.
;
Ades, L.
;
Megarbane, A.
;
Vidal, C.
;
Xuereb, A.
;
Tarpey, P.
;
Smith, R.
;
Khazab, M.
;
Shoubridge, C.
;
Partington, M.
;
Futreal, P.
;
Stratton, M.
;
Gecz, J.
;
Zinn, A.
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
Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients
Butcher, C.
;
Hahn, U.
;
To, L.
;
Gecz, J.
;
Wilkins, E.
;
Scott, H.
;
Bardy, P.
;
D'Andrea, R.
2008
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation
Turner, G.
;
Boyle, J.
;
Partington, M.
;
Kerr, B.
;
Raymond, F.
;
Gecz, J.
Discover
Author
2
Burdon, K.
2
Craig, J.
2
Futreal, P.
2
Partington, M.
2
Stratton, M.
2
Tarpey, P.
2
Turner, G.
1
Ades, L.
1
Bardy, P.
1
Barnes, R.
.
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Subject
6
Humans
5
Female
4
Mutation
3
Pedigree
2
Adult
2
Genetic Diseases, X-Linked
2
Genetic Linkage
2
Mental Retardation, X-Linked
2
Molecular Sequence Data
1
Abnormalities, Multiple
.
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