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1 Ergebnisse
1
De novo variants in CDK13 associated with syndromic ID/DD: ..:
van den Akker, W.M.R.
;
Brummelman, I.
;
Martis, L.M.
...
Clinical Genetics. 93 (2018) 5 - p. 1000-1007 , 2018
Link:
https://doi.org/10.1111/cge.13225
RT Journal T1
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.13225&Exemplar=1&LAN=DE A1 van den Akker, W.M.R. A1 Brummelman, I. A1 Martis, L.M. A1 Timmermans, R.N. A1 Pfundt, R. A1 Kleefstra, T. A1 Willemsen, M.H. A1 Gerkes, E.H. A1 Herkert, J.C. A1 van Essen, A.J. A1 Rump, P. A1 Vansenne, F. A1 Terhal, P.A. A1 van Haelst, M.M. A1 Cristian, I. A1 Turner, C.E. A1 Cho, M.T. A1 Begtrup, A. A1 Willaert, R. A1 Fassi, E. A1 van Gassen, K.L.I. A1 Stegmann, A.P.A. A1 de Vries, B.B.A. A1 Schuurs‐Hoeijmakers, J.H.M. PB Wiley YR 2018 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 93 IS 5 SP 1000 OP 1007 LK http://dx.doi.org/https://doi.org/10.1111/cge.13225 DO https://doi.org/10.1111/cge.13225 SF ELIB - SuUB Bremen
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