 | Up a level |
Journal Article
Lessel, Davor 
ORCID: 0000-0003-4496-244X, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J., Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie ORCID: 0000-0003-2714-965X, Sim, Joe C. H., Smith, Katherine R., Oehler, Judith, Cabrera, Elisa, Freire, Raimundo ORCID: 0000-0003-4473-8894, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J., Delatycki, Martin B., Barbi, Gotthold, von Ameln, Simon ORCID: 0000-0002-2242-3165, Hoegel, Josef, Degoricija, Marina ORCID: 0000-0001-7023-9381, Fertig, Regina, Burkhalter, Martin D., Hofmann, Kay ORCID: 0000-0002-2289-9083, Thiele, Holger, Altmueller, Janine, Nuernberg, Gudrun, Nuernberg, Peter, Bahlo, Melanie ORCID: 0000-0001-5132-0774, Martin, George M., Aalfs, Cora M., Oshima, Junko, Terzic, Janos, Amor, David J., Dikic, Ivan ORCID: 0000-0001-8156-9511, Ramadan, Kristijan and Kubisch, Christian ORCID: 0000-0003-4220-0978
(2014).
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Nature Genet., 46 (11).
S. 1239 - 1245.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
von Ameln, Simon ORCID: 0000-0002-2242-3165, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A., Smith, Geoffrey M., Li, Yun, Pogoda, Hans-Martin, Nuernberg, Gudrun, Stiller, Barbara, Volk, Alexander E., Borck, Guntram, Hong, Jason S., Goodyear, Richard J., Abidi, Omar, Nuernberg, Peter, Hofmann, Kay, Richardson, Gu Y. P., Hammerschmidt, Matthias, Moser, Tobias ORCID: 0000-0001-7145-0533, Wollnik, Bernd, Koehler, Carla M., Teitell, Michael A., Barakat, Abdelhamid and Kubisch, Christian ORCID: 0000-0003-4220-0978
(2012).
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
Am. J. Hum. Genet., 91 (5).
S. 919 - 928.
CAMBRIDGE:
CELL PRESS.
ISSN 0002-9297
Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin ORCID: 0000-0003-0683-9731, von Ameln, Simon ORCID: 0000-0002-2242-3165, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian ORCID: 0000-0003-4220-0978, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias and Robertson, Stephen P.
(2011).
Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid.
Am. J. Hum. Genet., 89 (5).
S. 595 - 607.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605