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2014
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration.Schaffer, AE, Eggens VR, Caglayan AO, Reuter MS, Scott E., Coufal NG, Silhavy JL, Xue Y., Kayserili H., Yasuno K., Rosti RO, Abdellateef M., Caglar C., Kasher PR, Cazemier JL, Weterman MA, Cantagrel V., Cai N., Zweier C., Altunoglu U., et al. Cell, 2014/04/24, Volume 157, Issue 3, p.651-63, (2014) Read More / View Supplemental Materials
Abstract
Mutations in CSPP1 Lead to Classical Joubert Syndrome.Akizu, N., Silhavy JL, Rosti RO, Scott E., Fenstermaker AG, Schroth J., Zaki MS, Sanchez H., Gupta N., Kabra M., Kara M., Ben-Omran T., Rosti B., Guemez-Gamboa A., Spencer E., Pan R., Cai N., Abdellateef M., Gabriel S., Halbritter J., et al. American journal of human genetics, 2014/01/02, Volume 94, Issue 1, p.80-6, (2014) Read More / View Supplemental Materials
Abstract
High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.Kurki, MI, Gaál EI, Kettunen J., Lappalainen T., Menelaou A., Anttila V., van 't Hof FN, von Und Zu Fraunberg M., Helisalmi S., Hiltunen M., Lehto H., Laakso A., Kivisaari R., Koivisto T., Ronkainen A., Rinne J., Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, et al. PLoS genetics, 2014/01/01, Volume 10, Issue 1, p.e1004134, (2014) Read More / View Supplemental Materials
Abstract
  • Showing 1-3 of 3 Results