Items where Author is "Thomas, NST"

Journal article

HAMBY, S.E., THOMAS, N.S.T., COOPER, D.N. and CHUZHANOVA, N., 2011. A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease. Human Genomics, 5, pp. 241-264.

PERSICHETTI, E., CHUZHANOVA, N.A., DARDIS, A., TAPPINO, B., POHL, S., THOMAS, N.S.T., ROSANO, C., BALDUCCI, C., PACIOTTI, S., DOMINISSINI, S., MONTALVO, A.L., SIBILIO, M., PARINI, R., RIGOLDI, M., DI, R., PARENTI, G., ORLACCHIO, A., BEMBI, B. and COOPER, D.N., 2009. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Human Mutation, 30, pp. 978-984.