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An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.
Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G. Lybaek H, et al. Among authors: steen vm. Eur J Hum Genet. 2009 Jul;17(7):904-10. doi: 10.1038/ejhg.2008.261. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156171 Free PMC article.
Usefulness of factor V Leiden mutation testing in clinical practice.
Blinkenberg EØ, Kristoffersen AH, Sandberg S, Steen VM, Houge G. Blinkenberg EØ, et al. Among authors: steen vm. Eur J Hum Genet. 2010 Aug;18(8):862-6. doi: 10.1038/ejhg.2010.33. Epub 2010 Mar 24. Eur J Hum Genet. 2010. PMID: 20332812 Free PMC article.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM. Fiskerstrand T, et al. Among authors: steen vm. Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002. Am J Hum Genet. 2010. PMID: 20797687 Free PMC article.
Linkage-disequilibrium-based binning affects the interpretation of GWASs.
Christoforou A, Dondrup M, Mattingsdal M, Mattheisen M, Giddaluru S, Nöthen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Jonassen I, Steen VM, Puntervoll P, Le Hellard S. Christoforou A, et al. Among authors: steen vm. Am J Hum Genet. 2012 Apr 6;90(4):727-33. doi: 10.1016/j.ajhg.2012.02.025. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444669 Free PMC article.
214 results