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Results 1-10 of 12 (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.
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,
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.
2011
Clinical effects and treatment of envenoming by Hoplocephalus spp. snakes in Australia: Australian Snakebite Project (ASP-12)
Isbister, G.
;
White, J.
;
Currie, B.
;
O'Leary, M.
;
Brown, S.
2013
Parental perspectives of vaccine safety and experience of adverse events following immunisation
Parrella, A.
;
Gold, M.
;
Marshall, H.
;
Braunack-Mayer, A.
;
Baghurst, P.
2012
Safety, immunogenicity, and tolerability of meningococcal serogroup B bivalent recombinant lipoprotein 2086 vaccine in healthy adolescents: a randomised, single-blind, placebo-controlled, phase 2 trial
Richmond, P.
;
Marshall, H.
;
Nissen, M.
;
Jiang, Q.
;
Jansen, K.
;
Garces-Sanchez, M.
;
Martinon-Torres, F.
;
Beeslaar, J.
;
Szenborn, L.
;
Wysocki, J.
;
Eiden, J.
;
Harris, S.
;
Jones, T.
;
Perez, J.
2012
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): A new autosomal dominant syndrome
Worthley, D.
;
Phillips, K.
;
Wayte, N.
;
Schrader, K.
;
Healey, S.
;
Kaurah, P.
;
Shulkes, A.
;
Grimpen, F.
;
Clouston, A.
;
Moore, D.
;
Cullen, D.
;
Ormonde, D.
;
Mounkley, D.
;
Wen, X.
;
Lindor, N.
;
Carniero, F.
;
Huntsman, D.
;
Chenevix-Trench, G.
;
Suthers, G.
Discover
Author
4
et al.
3
Field, M.
2
Gecz, J.
2
Kumar, R.
2
Marshall, H.
1
Adès, L.
1
Amaral, D.
1
Antinozzi, P.
1
Atkinson, M.
1
Baghurst, P.
.
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8
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5
Child, Preschool
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Intellectual Disability
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