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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Orphanet J Rare Dis. 2021 Oct 20;16(1):441. doi: 10.1186/s13023-021-02075-x.
Orphanet J Rare Dis. 2021.
PMID: 34670613
Free PMC article.
Tumoural CXCL16 expression is a novel prognostic marker of longer survival times in renal cell cancer patients.
Gutwein P, Schramme A, Sinke N, Abdel-Bakky MS, Voss B, Obermüller N, Doberstein K, Koziolek M, Fritzsche F, Johannsen M, Jung K, Schaider H, Altevogt P, Ludwig A, Pfeilschifter J, Kristiansen G.
Gutwein P, et al.
Eur J Cancer. 2009 Feb;45(3):478-89. doi: 10.1016/j.ejca.2008.10.023. Epub 2008 Dec 11.
Eur J Cancer. 2009.
PMID: 19070478
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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium; Sander T.
Lal D, et al.
PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May.
PLoS Genet. 2015.
PMID: 25950944
Free PMC article.
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