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Number of items: 4.

Yigit, Gökhan; Brown, Karen E; Kayserili, Hülya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bögershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nürnberg, Gudrun; Nürnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd (2015). Mutations in CDK5RAP2 cause Seckel syndrome. Molecular Genetics & Genomic Medicine, 3(5):467-480.

Elsayed, Solaf M; Phillips, Jennifer B; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nürnberg, Gudrun; Nürnberg, Peter; Seland, Saskia; Ebermann, Inga; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad; Körber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J (2015). Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Human Molecular Genetics, 24(9):2594-2603.

Haghighi, Alireza; Tiwari, Amit; Piri, Niloofar; Nürnberg, Gudrun; Saleh-Gohari, Nasrollah; Haghighi, Amirreza; Neidhardt, John; Nürnberg, Peter; Berger, Wolfgang (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE, 9(11):e112747.

Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J; Marinovic-Terzic, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C H; Smith, Katherine R; Oehler, Judith; Cabrera, Elisa; Freire, Raimundo; Pope, Kate; Nahid, Amsha; Norris, Fiona; Leventer, Richard J; Delatycki, Martin B; Barbi, Gotthold; von Ameln, Simon; Högel, Josef; Degoricija, Marina; Fertig, Regina; Burkhalter, Martin D; Hofmann, Kay; Thiele, Holger; Altmüller, Janine; Nürnberg, Gudrun; Nürnberg, Peter; Bahlo, Melanie; Martin, George M; Aalfs, Cora M; Oshima, Junko; Terzic, Janos; Amor, David J; Dikic, Ivan; Ramadan, Kristijan; Kubisch, Christian (2014). Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genetics, 46(11):1239-1244.

This list was generated on Fri Sep 20 09:41:41 2019 CEST.