ARDS with septic shock due to Legionella longbeachae pneumonia in a patient with polymyalgia rheumatica

Por Reynaldos Canton Migotto, T, Györik Lora, S, Gaia, V, Pagnamenta, A
Publicado em 2014

A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia

Por Lange, L., Pagnamenta, A. T., Lise, S., Clasper, S., Stewart, H., Akha, E. S., Quaghebeur, G., Knight, S. J. L., Keays, D. A., Taylor, J. C., Kini, U.
Publicado no Clin Genet (2016)

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

Por Houseman, M., Ellis, L., Pagnamenta, A., Di, W., Rickard, S., Osborn, A., Dahl, H., Taylor, G., Bitner-Glindzicz, M., Reardon, W., Mueller, R., Kelsell, D.
Publicado em 2001

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

Por Maestrini, E, Pagnamenta, A T, Lamb, J A, Bacchelli, E, Sykes, N H, Sousa, I, Toma, C, Barnby, G, Butler, H, Winchester, L, Scerri, T S, Minopoli, F, Reichert, J, Cai, G, Buxbaum, J D, Korvatska, O, Schellenberg, G D, Dawson, G, Bildt, A de, Minderaa, R B, Mulder, E J, Morris, A P, Bailey, A J, Monaco, A P
Publicado em 2010