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Results 1-10 of 27 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, M.
;
Brooks, S.
;
Stevenson, R.
;
Field, M.
;
Basehore, M.
;
Adès, L.
;
Sebold, C.
;
Mcgee, S.
;
Saxon, S.
;
Skinner, C.
;
Craig, M.
;
Murray, L.
;
Simensen, R.
;
Yap, Y.
;
Shaw, M.
;
Gardner, A.
;
Corbett, M.
;
Kumar, R.
;
Bosshard, M.
;
Van Loon, B.
;
et al.
2013
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E.
;
Rosenfeld, H.
;
Kampmann, C.
;
Johnson, J.
;
Beck, M.
;
Giugliani, R.
;
Guffon, N.
;
Ketteridge, D.
;
Miranda, C.
;
Scarpa, M.
;
Schwartz, I.
;
Teles, E.
;
Wraith, J.
;
Barrios, P.
;
Dias da Silva, E.
;
Kurio, G.
;
Richardson, M.
;
Gildengorin, G.
;
Hopwood, J.
;
Imperiale, M.
;
et al.
2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Brookes, E.
;
Laurent, B.
;
Õunap, K.
;
Carroll, R.
;
Moeschler, J.
;
Field, M.
;
Schwartz, C.
;
Gecz, J.
;
Shi, Y.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2013
Synthetic versus plaster of Paris casts in the treatment of fractures of the forearm in children: a randomised trial of clinical outcomes and patient satisfaction
Inglis, M.
;
McClelland, B.
;
Sutherland, L.
;
Cundy, P.
2018
A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk
Redondo, M.J.
;
Geyer, S.
;
Steck, A.K.
;
Sharp, S.
;
Wentworth, J.M.
;
Weedon, M.N.
;
Antinozzi, P.
;
Sosenko, J.
;
Atkinson, M.
;
Pugliese, A.
;
Oram, R.A.
;
Type 1 Diabetes TrialNet Study Group,
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.
2010
Cryogenic burns from intentional use of aerosol spray in children: An emerging phenomenon
Stefanutti, G.
;
Yee, J.
;
Sparnon, A.
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.
Discover
Author
4
et al.
3
Field, M.
3
Revesz, T.
2
Davidson, G.
2
Gecz, J.
2
Gold, M.
2
Kumar, R.
2
Manton, N.
2
Marshall, H.
2
Moore, L.
.
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Humans
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16
Child, Preschool
12
Adult
9
Young Adult
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Infant
8
Middle Aged
5
Infant, Newborn
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Case-Control Studies
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Intellectual Disability
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