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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: haukanes bi. 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.
CDR2 antigen and Yo antibodies.
Totland C, Aarskog NK, Eichler TW, Haugen M, Nøstbakken JK, Monstad SE, Salvesen HB, Mørk S, Haukanes BI, Vedeler CA. Totland C, et al. Among authors: haukanes bi. Cancer Immunol Immunother. 2011 Feb;60(2):283-9. doi: 10.1007/s00262-010-0943-9. Epub 2010 Nov 16. Cancer Immunol Immunother. 2011. PMID: 21080165 Free PMC article.
A mother and daughter with unexplained renal failure.
Christiansen RE, Fiskerstrand T, Leh S, Haukanes BI, Singh AK, Fervenza FC, Svarstad E. Christiansen RE, et al. Among authors: haukanes bi. Nephron Clin Pract. 2011;119(1):c1-9, discussion c7-8. doi: 10.1159/000327428. Epub 2011 May 27. Nephron Clin Pract. 2011. PMID: 21625178 Free article. No abstract available.
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Håvik B, Tønder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Fiskerstrand T, et al. Among authors: haukanes bi. N Engl J Med. 2012 Apr 26;366(17):1586-95. doi: 10.1056/NEJMoa1110132. Epub 2012 Mar 21. N Engl J Med. 2012. PMID: 22436048 Free article.
CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar Degeneration.
Eichler TW, Totland C, Haugen M, Qvale TH, Mazengia K, Storstein A, Haukanes BI, Vedeler CA. Eichler TW, et al. Among authors: haukanes bi. PLoS One. 2013 Jun 18;8(6):e66002. doi: 10.1371/journal.pone.0066002. Print 2013. PLoS One. 2013. PMID: 23823982 Free PMC article.
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G. Johansson S, et al. Among authors: haukanes bi. Am J Med Genet A. 2014 Jul;164A(7):1622-6. doi: 10.1002/ajmg.a.36498. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24678003
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. Heimdal K, et al. Among authors: haukanes bi. Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0. Orphanet J Rare Dis. 2014. PMID: 25258038 Free PMC article.
44 results