Adelaide Research & Scholarship: Search

Search

Results 1-10 of 11 (Search time: 0.003 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1996	Clinicopathologic features of congenital aneurysms of the great vessels	Ades, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
	2006	FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited	Ades, L.; Sullivan, K.; Biggin, A.; Haan, E.; Brett, M.; Holman, K.; Dixon, J.; Robertson, S.; Holmes, A.; Rogers, J.; Bennetts, B.
	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.
	2003	Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation	Kalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J.
	1997	The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies	D'Adamo, P.; Fassone, L.; Gedeon, A.; Janssen, E.; Bione, S.; Bolhuis, P.; Barth, P.; Wilson, M.; Haan, E.; Orstavik, H.; Patton, M.; Green, A.; Zammarchi, E.; Donati, M.; Toniolo, D.
	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.
	2009	Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2	Ghalamkarpour, A.; Debauche, C.; Haan, E.; Van Regemorter, N.; Snzajer, Y.; Thomas, D.; Revencu, N.; Gillerot, Y.; Boon, L.; Vikkula, M.
	2010	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay	Haan, E.; Gecz, J.
	2005	Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review	Yu, S.; Baker, E.; Hinton, L.; Eyre, H.; Waters, W.; Higgins, S.; Sutherland, G.; Haan, E.
	2009	A 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 technology	Talseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R.