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2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.Guemez-Gamboa, A., Nguyen LN, Yang H., Zaki MS, Kara M., Ben-Omran T., Akizu N., Rosti RO, Rosti B., Scott E., Schroth J., Copeland B., Vaux KK, Cazenave-Gassiot A., Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M., Gabriel S., et al. Nature genetics, 2015/05/25, (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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