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Results 81-90 of 91 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2009A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technologyTalseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R.
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.
2002The use of audiotapes in consultations with women from high risk breast cancer families: a randomised trialLobb, E.; Butow, P.; Meiser, B.; Barratt, A.; Kirk, J.; Gattas, M.; Haan, E.; Tucker, K.
2010Osteopathia Striata with cranial sclerosis owing to WTX gene defectPerdu, B.; de Freitas, F.; Frints, S.; Schouten, M.; Schrander-Stumpel, C.; Barbosa, M.; Pinto-Basto, J.; Reis-Lima, M.; de Vernejoul, M.; Becker, K.; Freckmann, M.; Keymolin, K.; Haan, E.; Savarirayan, R.; Koenig, B.; Zabel, B.; Vanhoenacker, F.; Van Hul, W.
2013C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsDobson-Stone, C.; Hallupp, M.; Loy, C.; Thompson, E.; Haan, E.; Sue, C.; Panegyres, P.; Razquin, C.; Seijo-Martinez, M.; Ramon, R.; Gascon, J.; Campdelacreu, J.; Schmoll, B.; Volk, A.; Brooks, W.; Schofield, P.; Pastor, P.; Kwok, J.; Wider, C.
2013In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutationHansford, J.; Pal, M.; Poplawski, N.; Haan, E.; Boog, B.; Ferrante, A.; Davis, J.; Niemela, J.; Rao, V.; Suppiah, R.
2014FRA2A is a CGG repeat expansion associated with silencing of AFF3Metsu, S.; Rooms, L.; Rainger, J.; Taylor, M.; Bengani, H.; Wilson, D.; Chilamakuri, C.; Morrison, H.; Vandeweyer, G.; Reyniers, E.; Douglas, E.; Thompson, G.; Haan, E.; Gecz, J.; FitzPatrick, D.; Kooy, R.; Pearson, C.
2006Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceMann, G.; Thorne, H.; Balleine, R.; Butow, P.; Clarke, C.; Edkins, E.; Evans, G.; Fereday, S.; Haan, E.; Gattas, M.; Giles, G.; Goldblatt, J.; Hopper, J.; Kirk, J.; Leary, J.; Lindeman, G.; Niedermayr, E.; Phillips, K.; Picken, S.; Pupo, G.; et al.
1996Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome: implications for mapping and cloning the BOR geneGu, J.; Wagner, M.; Haan, E.; Wells, D.

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