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Results 1-6 of 6 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2021
Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: a national cohort study
Wurzel, D.
;
McMinn, A.
;
Hoq, M.
;
Blyth, C.C.
;
Burgner, D.
;
Tosif, S.
;
Buttery, J.
;
Carr, J.
;
Clark, J.E.
;
Cheng, A.C.
;
Dinsmore, N.
;
Francis, J.R.
;
Kynaston, A.
;
Lucas, R.
;
Marshall, H.
;
McMullan, B.
;
Singh-Grewal, D.
;
Wood, N.
;
Macartney, K.
;
Britton, P.N.
;
et al.
2006
Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Stadler, S.
;
Polanetz, R.
;
Maier, E.
;
Heidenreich, S.
;
Niederer, B.
;
Mayerhofer, P.
;
Lagler, F.
;
Koch, H.
;
Santer, R.
;
Fletcher, J.
;
Ranieri, E.
;
Das, A.
;
Spiekerkotter, U.
;
Schwab, K.
;
Potzsch, S.
;
Marquardt, I.
;
Hennermann, J.
;
Knerr, I.
;
Mercimek-Mahmutoglu, S.
;
Kohlschmidt, N.
;
et al.
2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium
de Brouwer, A.
;
Yntema, H.
;
Kleefstra, T.
;
Lugtenberg, D.
;
Oudakker, A.
;
de Vries, B.
;
van Bokhoven, H.
;
Van Esch, H.
;
Frints, S.
;
Froyen, G.
;
Fryns, J.
;
Raynaud, M.
;
Moizard, M.
;
Ronce, N.
;
Bensalem, A.
;
Moraine, C.
;
Poirier, K.
;
Castelnau, L.
;
Saillour, Y.
;
Bienvenu, T.
;
et al.
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.
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.
Discover
Author
2
Frints, S.
2
Froyen, G.
2
Kleefstra, T.
2
Raynaud, M.
2
Van Esch, H.
1
Abidi, F.
1
Amaral, D.
1
Bensalem, A.
1
Bernier, R.
1
Bienek, M.
.
next >
Subject
6
Humans
5
Female
3
Adolescent
3
Mutation
2
Adult
2
Child
2
Intellectual Disability
2
Mental Retardation, X-Linked
2
Phenotype
1
Adaptor Proteins, Signal Transducing
.
next >
Date issued
1
2020 - 2021
3
2010 - 2019
2
2006 - 2009