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2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Roosing, S., Hofree M., Kim S., Scott E., Copeland B., Romani M., Silhavy JL, Rosti RO, Schroth J., Mazza T., Miccinilli E., Zaki MS, Swoboda KJ, Milisa-Drautz J., Dobyns WB, Mikati M., İncecik F., Azam M., Borgatti R., Romaniello R., et al. eLife, 2015/05/30, Volume 4, (2015) Read More / View Supplemental Materials
Abstract
2014
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
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