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Results 1-10 of 14 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2013
RAB40AL loss-of-function mutation does not cause X-linked intellectual disability
Kalscheuer, V.
;
Iqbal, Z.
;
Hu, H.
;
Haas, S.
;
Shaw, M.
;
Lebrun, N.
;
Seemanova, E.
;
Voesenek, K.
;
Hobson, L.
;
Ropers, H.H.
;
Townshend, S.
;
Raynaud, M.
;
van Bokhoven, H.
;
Riazuddin, S.
;
Chelly, J.
;
Gecz, J.
2016
New insights into Brunner syndrome and potential for targeted therapy
Palmer, E.
;
Leffler, M.
;
Rogers, C.
;
Shaw, M.
;
Carroll, R.
;
Earl, J.
;
Cheung, N.
;
Champion, B.
;
Hu, H.
;
Haas, S.
;
Kalscheuer, V.
;
Gecz, J.
;
Field, M.
2013
FOXP1 mutations cause intellectual disability and a recognizable phenotype
Le Fevre, A.
;
Taylor, S.
;
Malek, N.
;
Horn, D.
;
Carr, C.
;
Abdul-Rahman, O.
;
O'Donnell, S.
;
Burgess, T.
;
Shaw, M.
;
Gecz, J.
;
Bain, N.
;
Fagan, K.
;
Hunter, M.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
2015
Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability
Grozeva, D.
;
Carss, K.
;
Spasic-Boskovic, O.
;
Tejada, M.
;
Gecz, J.
;
Shaw, M.
;
Corbett, M.
;
Haan, E.
;
Thompson, E.
;
Friend, K.
;
Hussain, Z.
;
Hackett, A.
;
Field, M.
;
Renieri, A.
;
Stevenson, R.
;
Schwartz, C.
;
Floyd, J.
;
Bentham, J.
;
Cosgrove, C.
;
Keavney, B.
;
et al.
2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal
Haines, B.
;
Hughes, J.
;
Corbett, M.
;
Shaw, M.
;
Innes, J.
;
Patel, L.
;
Gecz, J.
;
Clayton-Smith, J.
;
Thomas, P.
2003
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not
Gecz, J.
;
Shaw, M.
;
Bellon, J.
;
de Barros Lopes, M.
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
2010
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Hackett, A.
;
Tarpey, P.
;
Licata, A.
;
Cox, J.
;
Whibley, A.
;
Boyle, J.
;
Rogers, C.
;
Grigg, J.
;
Partington, M.
;
Stevenson, R.
;
Tolmie, J.
;
Yates, J.
;
Turner, G.
;
Wilson, M.
;
Futreal, P.
;
Corbett, M.
;
Shaw, M.
;
Gecz, J.
;
Raymond, F.
;
Stratton, M.
Discover
Author
4
Corbett, M.
3
Field, M.
2
et al.
2
Friend, K.
2
Haan, E.
2
Haas, S.
2
Hackett, A.
2
Hobson, L.
2
Hu, H.
2
Kalscheuer, V.
.
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Subject
8
Humans
6
Male
4
Mutation
4
Pedigree
3
Abnormalities, Multiple
3
Animals
3
Carrier Proteins
3
Female
3
Membrane Transport Proteins
3
Mice
.
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Date issued
8
2010 - 2016
6
2002 - 2009