Adelaide Research & Scholarship: Search

Search

Results 71-80 of 142 (Search time: 0.003 seconds).

previous
1
...
5
6
7
8
9
10
11
...
15
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2015	Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder	Kumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.; et al.
	2014	Long term follow up of high risk children: who, why and how?	Doyle, L.; Anderson, P.; Battin, M.; Bowen, J.; Brown, N.; Callanan, C.; Campbell, C.; Chandler, S.; Cheong, J.; Darlow, B.; Davis, P.; DePaoli, T.; French, N.; McPhee, A.; Morris, S.; O'Callaghan, M.; Rieger, I.; Roberts, G.; Spittle, A.; Wolke, D.; et al.
	2015	A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype	Terhal, P.; Nievelstein, R.; Verver, E.; Topsakal, V.; van Dommelen, P.; Hoornaert, K.; Le Merrer, M.; Zankl, A.; Simon, M.; Smithson, S.; Marcelis, C.; Kerr, B.; Clayton-Smith, J.; Kinning, E.; Mansour, S.; Elmslie, F.; Goodwin, L.; van der Hout, A.; Veenstra-Knol, H.; Herkert, J.; et al.
	2016	De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations	Reijnders, M.; Zachariadis, V.; Latour, B.; Jolly, L.; Mancini, G.; Pfundt, R.; Wu, K.; Van Ravenswaaij-Arts, C.; Veenstra-Knol, H.; Anderlid, B.; Wood, S.; Cheung, S.; Barnicoat, A.; Probst, F.; Magoulas, P.; Brooks, A.; Malmgren, H.; Harila-Saari, A.; Marcelis, C.; Vreeburg, M.; et al.
	2010	Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study	Buchanan, D.; Sweet, K.; Drini, M.; Jenkins, M.; Win, A.; Gattas, M.; Walsh, M.; Clendenning, M.; McKeone, D.; Walters, R.; Roberts, A.; Young, A.; Hampel, H.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; Young, G.; Chow, E.; et al.
	2011	Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)	Roberts, A.; Nancarrow, D.; Clendenning, M.; Buchanan, D.; Jenkins, M.; Duggan, D.; Taverna, D.; McKeone, D.; Walters, R.; Walsh, M.; Young, B.; Jass, J.; Rosty, C.; Gattas, M.; Pelzer, E.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; et al.
	2010	Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase	Harmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.
	2009	Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis	Walsh, M.; Buchanan, D.; Walters, R.; Roberts, A.; Arnold, S.; McKeone, D.; Clendenning, M.; Ruszkiewicz, A.; Jenkins, M.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; Young, G.; Macrae, F.; Drini, M.; Woods, M.; Parry, S.; Jass, J.; et al.
	2010	Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability	Whibley, A.; Plagnol, V.; Tarpey, P.; Abidi, F.; Fullston, T.; Choma, M.; Boucher, C.; Shepherd, L.; Willatt, L.; Parkin, G.; Smith, R.; Futreal, P.; Shaw, M.; Boyle, J.; Licata, A.; Skinner, C.; Stevenson, R.; Turner, G.; Field, M.; Hackett, A.; et al.
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.