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Results 31-40 of 92 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
2006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyKnisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
2002The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatmentGaustadnes, M.; Wilcken, B.; Oliveriusova, J.; McGill, J.; Fletcher, J.; Kraus, J.; Wilcken, D.
2011Hospitalisation with infection, asthma and allergy in Kawasaki disease patients and their families: Genealogical analysis using linked population dataWebster, R.; Carter, K.; Warrington, N.; Loh, A.; Zaloumis, S.; Kuijpers, T.; Palmer, L.; Burgner, D.; Dubé, M.-P.
2016Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersMoey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
2010Testicular and paratesticular pathology in children: a 12-year histopathological reviewMarulaiah, M.; Gilhotra, A.; Moore, L.; Boucaut, H.; Goh, D.
2010Chemokine/Chemokine receptor interactions in extramedullary leukaemia of the skin in childhood AML: Differential roles for CCR2, CCR5, CXCR4 and CXCR7Faaij, C.; Willemze, A.; Revesz, T.; Balzarolo, M.; Tensen, C.; Hoogeboom, M.; Vermeer, M.; van Wering, E.; Zwaan, C.; Kaspers, G.; Story, C.; van Halteren, A.; Vossen, J.; Egeler, R.; van Tol, M.; Annels, N.
2005Potential risk factors for prolonged recovery following whiplash injuryOsti, O.; Gun, R.; Abraham, G.; Pratt, N.; Eckerwall, C.; Nakamura, H.
2012Trends in cancer mortality rates among migrants in Australia: 1981-2007Anikeeva, O.; Bi, P.; Hiller, J.; Ryan, P.; Roder, D.; Han, G.