1. Adelaide Research & Scholarship

Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-10 of 40 (Search time: 0.007 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2012Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010Murray, C.; Vos, T.; Lozano, R.; Naghavi, M.; Flaxman, A.; Michaud, C.; Ezzati, M.; Shibuya, K.; Salomon, J.; Abdalla, S.; Aboyans, V.; Abraham, J.; Ackerman, I.; Aggarwal, R.; Ahn, S.; Ali, M.; Alvarado, M.; Anderson, H.; Anderson, L.; Andrews, K.; et al.
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, 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.
2016Characterization of leukemias with ETV6-ABL1 fusionZaliova, M.; Moorman, A.; Cazzaniga, G.; Stanulla, M.; Harvey, R.; Roberts, K.; Heatley, S.; Loh, M.; Konopleva, M.; Chen, I.; Zimmermannova, O.; Schwab, C.; Smith, O.; Mozziconacci, M.; Chabannon, C.; Kim, M.; Frederik Falkenburg, J.; Norton, A.; Marshall, K.; Haas, O.; et al.; Annual Meeting of the American-Society-of-Hematology (5 Dec 2015 - 8 Dec 2015 : Orlando, FL)
2016Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemiaIrving, J.; Enshaei, A.; Parker, C.; Sutton, R.; Kuiper, R.; Erhorn, A.; Minto, L.; Venn, N.; Law, T.; Yu, J.; Schwab, C.; Davies, R.; Matheson, E.; Davies, A.; Sonneveld, E.; Den Boer, M.; Love, S.; Harrison, C.; Hoogerbrugge, P.; Revesz, T.; et al.
2018Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysisAlbers, L.; Sobotzki, C.; Kuß, O.; Ajslev, T.; Batista, R.; Bettiol, H.; Brabin, B.; Buka, S.; Cardoso, V.; Clifton, V.; Devereux, G.; Gilman, S.; Grzeskowiak, L.; Heinrich, J.; Hummel, S.; Jacobsen, G.; Jones, G.; Koshy, G.; Morgen, C.; Oken, E.; et al.
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.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.

Discover