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2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Akizu, N., Cantagrel V., Zaki MS, Al-Gazali L., Wang X., Rosti RO, Dikoglu E., Gelot AB, Rosti B., Vaux KK, Scott EM, Silhavy JL, Schroth J., Copeland B., Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G., et al. Nature genetics, 2015/04/06, (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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