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Results 21-28 of 28 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1995Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508)Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2009SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypeSpurlock, G.; Bennett, E.; Chuzhanova, N.; Thomas, N.; H-Ping, J.; Side, L.; Davies, S.; Haan, E.; Kerr, B.; Huson, S.; Upadhyaya, M.
2003Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndromeBaumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.
2009A Novel Bocavirus Associated with Acute Gastroenteritis in Australian ChildrenArthur, J.; Higgins, G.; Davidson, G.; Givney, R.; Ratcliff, R.; Münger, K.
1999Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3Savino, M.; d'Apolito, M.; Centra, M.; van Beerendonk, H.; Cleton-Jansen, A.M.; Whitmore, S.; Crawford, J.; Callen, D.; Zelante, L.; Savoia, A.
2001Isolation, tissue distribution, and chromosomal localization of a novel testis-specific human four-transmembrane gene related to CD20 and FcRI-bHulett, M.; Pagler, E.; Hornby, J.; Hogarth, P.; Eyre, H.; Baker, E.; Crawford, J.; Sutherland, G.; Ohms, S.; Parish, C.
2002A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutationShaw, M.; Chiurazzi, P.; Romain, D.; Neri, G.; Gecz, J.