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Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish

Journal Article published 11 Jan 2018 in Human Mutation volume 39 issue 4 on pages 495 to 505

Research funded by Erik Rönnberg Foundation | Marianne and Marcus Wallenberg Foundation (2014.0084) | Svenska Sällskapet för Medicinsk Forskning | Knut och Alice Wallenbergs Stiftelse | Hjärnfonden | Nilsson Ehle Donations | Kommunfullmäktige, Stockholms Stad | Arvid Nilssons Fond | The Harald and Greta Jeanssons foundation | Vetenskapsrådet (2012-1526)

Authors: Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand