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2014
Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability.Law, R., Dixon-Salazar T., Jerber J., Cai N., Abbasi AA, Zaki MS, Mittal K., Gabriel SB, Rafiq MA, Khan V., Nguyen M., Ali G., Copeland B., Scott E., Vasli N., Mikhailov A., Khan MN, Andrade DM, Ayaz M., Ansar M., et al. American journal of human genetics, 2014/12/04, Volume 95, Issue 6, p.721-8, (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
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