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Issue Date
Title
Author(s)
2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
Harmatz, P.
;
Yu, Z.
;
Giugliani, R.
;
Schwartz, I.
;
Guffon, N.
;
Teles, E.
;
Miranda, C.
;
Wraith, J.
;
Beck, M.
;
Arash, L.
;
Scarpa, M.
;
Ketteridge, D.
;
Hopwood, J.
;
Plecko, B.
;
Steiner, R.
;
Whitley, C.
;
Kaplan, P.
;
Swiedler, S.
;
Hardy, K.
;
Berger, K.
;
et al.
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.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2010
Cryogenic burns from intentional use of aerosol spray in children: An emerging phenomenon
Stefanutti, G.
;
Yee, J.
;
Sparnon, A.
2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Lynch, S.
;
Nguyen, L.
;
Ng, L.
;
Waldron, M.
;
McDonald, D.
;
Gecz, J.
2010
Bone marrow fibrosis and vascular density lack prognostic significance in childhood acute lymphoblastic leukaemia
Baros, A.
;
de Jong, A.
;
Manton, N.
;
Venn, N.
;
Story, C.
;
Hodge, G.
;
Nath, S.
;
Suppiah, R.
;
Tapp, H.
;
Sutton, R.
;
Revesz, T.
2011
A novel method for the nonradiological assessment of ineffective swallowing
Omari, T.
;
Dejaeger, E.
;
Van Beckevoort, D.
;
Goeleven, A.
;
de Cock, P.
;
Hoffman, I.
;
Smet, M.
;
Davidson, G.
;
Tack, J.
;
Rommel, N.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2011
Calculating the mean amplitude of glycemic excursion from continuous glucose monitoring data: An automated algorithm
Baghurst, P.
2010
Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531) -> His mutation
Nath, S.
;
Williams, V.
;
Griffiths, A.
;
Revesz, T.
Discover
Author
11
Gecz, J.
8
Anderson, P.J.
8
et al.
7
Doyle, L.W.
7
Scheffer, I.
6
Revesz, T.
5
Dibbens, L.
5
Lee, K.J.
4
Berkovic, S.
4
Cheong, J.L.Y.
.
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Subject
69
Humans
55
Male
50
Female
32
Child, Preschool
29
Adolescent
19
Adult
16
Infant
13
Infant, Newborn
12
Mutation
10
Australia
.
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