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216 results

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Page 1
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.
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T. Tønne E, et al. Among authors: steen vm. Eur J Hum Genet. 2015 Dec;23(12):1652-6. doi: 10.1038/ejhg.2015.30. Epub 2015 Mar 4. Eur J Hum Genet. 2015. PMID: 25735484 Free PMC article.
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.
Høberg-Vetti H, Bjorvatn C, Fiane BE, Aas T, Woie K, Espelid H, Rusken T, Eikesdal HP, Listøl W, Haavind MT, Knappskog PM, Haukanes BI, Steen VM, Hoogerbrugge N. Høberg-Vetti H, et al. Among authors: steen vm. Eur J Hum Genet. 2016 Jun;24(6):881-8. doi: 10.1038/ejhg.2015.196. Epub 2015 Sep 9. Eur J Hum Genet. 2016. PMID: 26350514 Free PMC article.
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J, Staedtler F, Zhou H, Fiskerstrand T, Ramsay M. Ngcungcu T, et al. Among authors: steen vm. Am J Hum Genet. 2017 May 4;100(5):737-750. doi: 10.1016/j.ajhg.2017.03.012. Epub 2017 Apr 27. Am J Hum Genet. 2017. PMID: 28457472 Free PMC article.
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.
216 results