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Journal Article
Sowada, Nadine, Hashem, Mais Omar, Yilmaz, Ruestem, Hamad, Muddathir, Kakar, Naseebullah, Thiele, Holger, Arold, Stefan T., Bode, Harald, Alkuraya, Fowzan S. and Borck, Guntram (2017). Mutations of PTPN23 in developmental and epileptic encephalopathy. Hum. Genet., 136 (11-12). S. 1455 - 1462. NEW YORK: SPRINGER. ISSN 1432-1203
Spielmann, Malte 
ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G. ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram
(2016).
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Genome Res., 26 (2).
S. 183 - 192.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469