 | Up a level |
2017
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
2016
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
2015
Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian ORCID: 0000-0003-4220-0978
(2015).
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res., 25 (2).
S. 155 - 167.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469