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Preview	Issue Date	Title	Author(s)
	1996	Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients	Litjens, T.; Brooks, D.; Peters, C.; Gibson, G.; Hopwood, J.
	2008	Guidelines for the use of infant formulas to treat cows milk protein allergy: an Australian consensus panel opinion	Kemp, A.; Hill, D.; Allen, K.; Davidson, G.; Day, A.; Heine, R.; Peake, J.; Prescott, S.; Shugg, A.; Anderson, K.; Sinn, J.
	1998	Haemolytic-uraemic syndrome outbreak caused by Escherichia coli O111:H-: clinical outcomes	Henning, P.; Tham, E.; Martin, A.; Beare, T.; Jureidini, K.
	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.
	2013	Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome	Aoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; 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.
	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.
	1999	Serum antibodies to Balamuthia mandrillaris, a free-living amoeba recently demonstrated to cause granulomatous amoebic encephalitis	Huang, Z.; Ferrante, A.; Carter, R.
	2010	Milk-derived transforming growth factor-β and the infant immune response	Penttila, I.
	2006	Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples	Dean, C.; Bockmann, M.; Hopwood, J.; Brooks, D.; Meikle, P.