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268 results
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Variegated translocation mosaicism in human skin fibroblast cultures.
Hoehn H, Bryant EM, Au K, Norwood TH, Boman H, Martin GM. Hoehn H, et al. Among authors: boman h. Cytogenet Cell Genet. 1975;15(5):282-98. doi: 10.1159/000130526. Cytogenet Cell Genet. 1975. PMID: 1222585
Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich-Turner syndrome patient with three children.
Houge G, Boman H, Lybaek H, Ness GO, Juliusson PB. Houge G, et al. Among authors: boman h. Am J Med Genet A. 2006 May 15;140(10):1092-7. doi: 10.1002/ajmg.a.31204. Am J Med Genet A. 2006. PMID: 16596671
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Macia MS, et al. Among authors: boman h. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12. Am J Hum Genet. 2017. PMID: 28089251 Free PMC article.
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
Christensen AE, Knappskog PM, Midtbø M, Gjesdal CG, Mengel-From J, Morling N, Rødahl E, Boman H. Christensen AE, et al. Among authors: boman h. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):47-52. doi: 10.1167/iovs.09-4251. Epub 2009 Aug 6. Invest Ophthalmol Vis Sci. 2010. PMID: 19661234
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: h mida ben brahim d, boman h. 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.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Bredrup C, et al. Among authors: boman h. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20. Am J Hum Genet. 2011. PMID: 22019273 Free PMC article.
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.
Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H. Knappskog PM, et al. Among authors: boman h. Am J Hum Genet. 2003 Feb;72(2):375-83. doi: 10.1086/346120. Epub 2002 Dec 31. Am J Hum Genet. 2003. PMID: 12509788 Free PMC article.
Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation.
Kvistad PH, Løvås K, Boman H, Myking OL. Kvistad PH, et al. Among authors: boman h. Eur J Endocrinol. 2004 Apr;150(4):425-30. doi: 10.1530/eje.0.1500425. Eur J Endocrinol. 2004. PMID: 15080770
The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.
Løvlie R, Eiken HG, Sørheim JI, Boman H. Løvlie R, et al. Among authors: boman h. Hum Genet. 1996 Aug;98(2):129-33. doi: 10.1007/s004390050174. Hum Genet. 1996. PMID: 8698326
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Olsen TC, Eiken HG, Knappskog PM, Kase BF, Månsson JE, Boman H, Apold J. Olsen TC, et al. Among authors: boman h. Hum Genet. 1996 Feb;97(2):198-203. doi: 10.1007/BF02265265. Hum Genet. 1996. PMID: 8566953
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