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Issue Date
Title
Author(s)
2015
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
Kumar, R.
;
Corbett, M.
;
Smith, N.
;
Jolly, L.
;
Tan, C.
;
Keating, D.
;
Duffield, M.
;
Utsumi, T.
;
Moriya, K.
;
Smith, K.
;
Hoischen, A.
;
Abbott, K.
;
Harbord, M.
;
Compton, A.
;
Woenig, J.
;
Arts, P.
;
Kwint, M.
;
Wieskamp, N.
;
Gijsen, S.
;
Veltman, J.
;
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.
2015
Developmental disorders: deciphering exomes on a grand scale
Gecz, J.
;
Corbett, M.
2015
Gestational dietary protein is associated with sex specific decrease in blood flow, fetal heart growth and post-natal blood pressure of progeny
Hernandez-Medrano, J.
;
Copping, K.
;
Hoare, A.
;
Wapanaar, W.
;
Grivell, R.
;
Kuchel, T.
;
Miguel-Pacheco, G.
;
McMillen, I.
;
Rodgers, R.
;
Perry, V.
;
Crispi-Brillas, F.
2010
Testicular and paratesticular pathology in children: a 12-year histopathological review
Marulaiah, M.
;
Gilhotra, A.
;
Moore, L.
;
Boucaut, H.
;
Goh, D.
2010
Chemokine/Chemokine receptor interactions in extramedullary leukaemia of the skin in childhood AML: Differential roles for CCR2, CCR5, CXCR4 and CXCR7
Faaij, C.
;
Willemze, A.
;
Revesz, T.
;
Balzarolo, M.
;
Tensen, C.
;
Hoogeboom, M.
;
Vermeer, M.
;
van Wering, E.
;
Zwaan, C.
;
Kaspers, G.
;
Story, C.
;
van Halteren, A.
;
Vossen, J.
;
Egeler, R.
;
van Tol, M.
;
Annels, N.
2012
A possible murine model for investigation of pathogenesis of Sudden Infant Death Syndrome
Bettelheim, K.
;
Luke, R.
;
Johnston, N.
;
Pearce, J.
;
Goldwater, P.
2010
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
Dimasi, D.
;
Chen, J.
;
Hewitt, A.
;
Klebe, S.
;
Davey, R.
;
Stirling, J.
;
Thompson, E.
;
Forbes, R.
;
Tan, T.
;
Savarirayan, R.
;
Mackey, D.
;
Healey, P.
;
Mitchell, P.
;
Burdon, K.
;
Craig, J.
2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Whibley, A.
;
Plagnol, V.
;
Tarpey, P.
;
Abidi, F.
;
Fullston, T.
;
Choma, M.
;
Boucher, C.
;
Shepherd, L.
;
Willatt, L.
;
Parkin, G.
;
Smith, R.
;
Futreal, P.
;
Shaw, M.
;
Boyle, J.
;
Licata, A.
;
Skinner, C.
;
Stevenson, R.
;
Turner, G.
;
Field, M.
;
Hackett, A.
;
et al.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
Discover
Author
22
et al.
22
Gecz, J.
20
Anderson, P.J.
17
Doyle, L.W.
13
Lee, K.J.
12
Cheong, J.L.Y.
12
Makrides, M.
9
Field, M.
9
Haan, E.
9
Thompson, D.K.
.
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