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Journal Article
Asadollahi, Reza, Strauss, Justin E., Zenker, Martin, Beuing, Oliver ORCID: 0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M., Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula
ORCID: 0000-0001-8122-1427, Ekici, Arif B., Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T. and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2018).
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur. J. Hum. Genet., 26 (2).
S. 197 - 210.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Schroeder, Simone, Li, Yun, Yigit, Gokhan, Altmueller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Korenke, G. Christoph, Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd and Brockmann, Knut . Heterozygous truncating variants inSUFUcause congenital ocular motor apraxia. Genet. Med.. LONDON: SPRINGERNATURE. ISSN 1530-0366
Schroeder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Goekhan, Altmueller, Janine, Boltshauser, Eugen, Doerk, Thilo and Brockmann, Knut (2020). Evidence of pathogenicity for the leaky splice variant c.1066-6T>G inATM. Am. J. Med. Genet. A, 182 (12). S. 2971 - 2976. HOBOKEN: WILEY. ISSN 1552-4833
Stephen, Louise A., Tawamie, Hasan, Davis, Gemma M., Tebbe, Lars, Nuernberg, Peter, Nuernberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, Andre ORCID: 0000-0002-6301-6363, Ekici, Arif B., McTeir, Lynn, Fraser, Amy M., Hall, Emma A., Mill, Pleasantine
ORCID: 0000-0001-5218-134X, Daudet, Nicolas
ORCID: 0000-0002-4039-4716, Cross, Courtney
ORCID: 0000-0001-5345-9614, Wolfrum, Uwe, Abou Jamra, Rami, Davey, Megan G. and Bolz, Hanno J.
(2015).
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
eLife, 4.
CAMBRIDGE:
ELIFE SCIENCES PUBLICATIONS LTD.
ISSN 2050-084X