Adelaide Research & Scholarship: Search

Search

Results 1-10 of 12 (Search time: 0.003 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1998	Identification of a common mutation (R245h) in Sanfilippo A patients from the Netherlands	Weber, B.; Vandekamp, J.; Kleijer, W.; Guo, X.H.; Blanch, L.; van Diggelen, O.; Wevers, R.; Poorthuis, B.; Hopwood, J.
	2004	Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II	Hermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2003	Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4	Shaw, M.; Brunetti-Pierre, N.; Kadasi, L.; Kovacova, V.; van Maldergem, L.; De Brasi, D.; Salerno, M.; Gecz, J.
	2002	ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation	Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
	1997	Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene	Sampson, J.; Maheshwar, M.; Aspinwall, R.; Thompson, P.; Cheadle, J.; Ravine, D.; Roy, S.; Haan, E.; Bernstein, J.; Harris, P.
	2007	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor	Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
	2010	Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study	McIntosh, A.; McMahon, J.; Dibbens, L.; Iona, X.; Mulley, J.; Scheffer, I.; Berkovic, S.
	2005	Enzyme replacement therapy for Gaucher disease in Australia	Goldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
	2004	Mutations of the mitochondrial ND1 gene as a cause of MELAS	Kirby, D.; McFarland, R.; Ohtake, A.; Dunning, C.; Ryan, M.; Wilson, C.; Ketteridge, D.; Turnbull, D.; Thorburn, D.; Taylor, R.