Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 31-39 of 39 (Search time: 0.003 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
1996A novel X-linked gene, G4.5. is responsible for Barth SyndromeBione, S.; D'Adamo, P.; Maestrini, E.; Gedeon, A.; Bolhuis, P.; Toniolo, D.
2008Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patientsButcher, C.; Hahn, U.; To, L.; Gecz, J.; Wilkins, E.; Scott, H.; Bardy, P.; D'Andrea, R.
2008Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutationTurner, G.; Boyle, J.; Partington, M.; Kerr, B.; Raymond, F.; Gecz, J.
2006Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adultsJansen, F.; Sadleir, L.; Harkin, L.; Vadlamudi, L.; McMahon, J.; Mulley, J.; Scheffer, I.; Berkovic, S.
2011Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndromeDrini, M.; Wong, N.; Scott, H.; Craig, J.; Dobrovic, A.; Hewitt, C.; Dow, C.; Young, J.; Jenkins, M.; Saffery, R.; Macrae, F.; Oshima, R.
2011Parallel evolution of Bacillus thuringiensis toxin resistance in lepidopteraBaxter, S.; Badenes-Perez, F.; Morrison, A.; Vogel, H.; Crickmore, N.; Kain, W.; Wang, P.; Heckel, D.; Jiggins, C.
1998PAK3 mutation in nonsyndromic X-linked mental retardationAllen, K.; Gleeson, J.; Bagrodia, S.; Partington, M.; MacMillan, J.; Cerione, R.; Mulley, J.; Walsh, C.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2018A Upf3b-mutant mouse model with behavioral and neurogenesis defectsHuang, L.; Shum, E.; Jones, S.; Lou, C.-H.; Dumdie, J.; Kim, H.; Roberts, A.; Jolly, L.; Espinoza, J.; Skarbrevik, D.; Phan, M.; Cook-Andersen, H.; Swerdlow, N.; Gecz, J.; Wilkinson, M.