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Issue Date
Title
Author(s)
2014
Rural Environments and Community Health (REACH): a randomised controlled trial protocol for an online walking intervention in rural adults
Mitchell, B.
;
Lewis, N.
;
Smith, A.
;
Rowlands, A.
;
Parfitt, G.
;
Dollman, J.
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.
2013
Parental and societal support for adolescent immunization through school based immunization programs
Marshall, H.
;
Collins, J.
;
Sullivan, T.
;
Tooher, R.
;
O'Keefe, M.
;
Skinner, S.
;
Watson, M.
;
Burgess, T.
;
Ashmeade, H.
;
Braunack-Mayer, A.
2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H.
;
Haas, S.
;
Chelly, J.
;
Van Esch, H.
;
Raynaud, M.
;
De Brouwer, A.
;
Weinert, S.
;
Froyen, G.
;
Frints, S.
;
Laumonnier, F.
;
Zemojtel, T.
;
Love, M.
;
Richard, H.
;
Emde, A.
;
Bienek, M.
;
Jensen, C.
;
Hambrock, M.
;
Fischer, U.
;
Langnick, C.
;
Feldkamp, M.
;
et al.
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,
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
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.
Discover
Author
5
et al.
4
Marshall, H.
3
Field, M.
3
Gecz, J.
2
Braunack-Mayer, A.
2
Davidson, G.
2
Kumar, R.
2
Sawyer, M.
1
Adès, L.
1
Agreus, L.
.
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