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1 Ergebnisse
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Dominant variants in the splicing factor PUF60 cause a reco..:
El Chehadeh, Salima
;
Kerstjens-Frederikse, Wilhelmina S
;
Thevenon, Julien
...
European Journal of Human Genetics. 25 (2016) 1 - p. 43-51 , 2016
Link:
https://doi.org/10.1038/ejhg.2016.133
RT Journal T1
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ejhg.2016.133&Exemplar=1&LAN=DE A1 El Chehadeh, Salima A1 Kerstjens-Frederikse, Wilhelmina S A1 Thevenon, Julien A1 Kuentz, Paul A1 Bruel, Ange-Line A1 Thauvin-Robinet, Christel A1 Bensignor, Candace A1 Dollfus, Hélène A1 Laugel, Vincent A1 Rivière, Jean-Baptiste A1 Duffourd, Yannis A1 Bonnet, Caroline A1 Robert, Matthieu P A1 Isaiko, Rodica A1 Straub, Morgane A1 Creuzot-Garcher, Catherine A1 Calvas, Patrick A1 Chassaing, Nicolas A1 Loeys, Bart A1 Reyniers, Edwin A1 Vandeweyer, Geert A1 Kooy, Frank A1 Hančárová, Miroslava A1 Havlovicová, Marketa A1 Prchalová, Darina A1 Sedláček, Zdenek A1 Gilissen, Christian A1 Pfundt, Rolph A1 Wassink-Ruiter, Jolien S Klein A1 Faivre, Laurence PB Springer Science and Business Media LLC YR 2016 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 25 IS 1 SP 43 OP 51 LK http://dx.doi.org/https://doi.org/10.1038/ejhg.2016.133 DO https://doi.org/10.1038/ejhg.2016.133 SF ELIB - SuUB Bremen
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