Adelaide Research & Scholarship: Search

Search

Results 121-130 of 139 (Search time: 0.004 seconds).

previous
1
...
10
11
12
13
14
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2006	Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient	Crawford, J.; Lower, K.; Hennekam, R.; Van Esch, H.; Megarbane, A.; Lynch, S.; Turner, G.; Gecz, J.
	2010	Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families	Hynes, 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.
	2002	Evolution of the human X - a smart and sexy chromosome that controls speciation and development	Graves, J.; Gecz, J.; Hameister, H.
	2003	Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome	Baumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.
	2010	Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders	White, R.; Ho, G.; Schmidt, S.; Scheffer, I.; Fischer, A.; Yendle, S.; Bienvenu, T.; Nectoux, J.; Ellaway, C.; Darmanian, A.; Tong, X.; Cloosterman, D.; Bennetts, B.; Kalra, V.; Fullston, T.; Gecz, J.; Cox, T.; Christodoulou, J.
	2010	Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability	Shoubridge, C.; Walikonis, R.; Gecz, J.; Harvey, R.
	2014	FRA2A is a CGG repeat expansion associated with silencing of AFF3	Metsu, 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.
	2012	Polyalanine tract disorders and neurocognitive phenotypes	Shoubridge, C.; Gecz, J.; Hannan, A.
	2009	Börjeson-Forssman-Lehmann Syndrome	Crawford, J.; Partington, M.; Corbett, M.; Lower, K.; Gecz, J.; Beales, P.; Farooqi, I.; O'Rahilly, S.
	2015	A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A	Corbett, M.A.; Dudding-Byth, T.; Crock, P.A.; Botta, E.; Christie, L.M.; Nardo, T.; Caligiuri, G.; Hobson, L.; Boyle, J.; Mansour, A.; Friend, K.L.; Crawford, J.; Jackson, G.; Vandeleur, L.; Hackett, A.; Tarpey, P.; Stratton, M.R.; Turner, G.; Gecz, J.; Field, M.