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Page 1
Neural correlates of taste perception in congenital olfactory impairment.
Gagnon L, Vestergaard M, Madsen K, Karstensen HG, Siebner H, Tommerup N, Kupers R, Ptito M. Gagnon L, et al. Among authors: tommerup n. Neuropsychologia. 2014 Sep;62:297-305. doi: 10.1016/j.neuropsychologia.2014.07.018. Epub 2014 Jul 29. Neuropsychologia. 2014. PMID: 25080191
Isolated and syndromic forms of congenital anosmia.
Karstensen HG, Tommerup N. Karstensen HG, et al. Among authors: tommerup n. Clin Genet. 2012 Mar;81(3):210-5. doi: 10.1111/j.1399-0004.2011.01776.x. Epub 2011 Oct 12. Clin Genet. 2012. PMID: 21895637 Review.
The first mutation in CNGA2 in two brothers with anosmia.
Karstensen HG, Mang Y, Fark T, Hummel T, Tommerup N. Karstensen HG, et al. Among authors: tommerup n. Clin Genet. 2015 Sep;88(3):293-6. doi: 10.1111/cge.12491. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25156905
Structural genomic variation in childhood epilepsies with complex phenotypes.
Helbig I, Swinkels ME, Aten E, Caliebe A, van 't Slot R, Boor R, von Spiczak S, Muhle H, Jähn JA, van Binsbergen E, van Nieuwenhuizen O, Jansen FE, Braun KP, de Haan GJ, Tommerup N, Stephani U, Hjalgrim H, Poot M, Lindhout D, Brilstra EH, Møller RS, Koeleman BP. Helbig I, et al. Among authors: tommerup n. Eur J Hum Genet. 2014 Jul;22(7):896-901. doi: 10.1038/ejhg.2013.262. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281369 Free PMC article. Clinical Trial.
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E, Møller RS, Ullmann R, He J, Papadopoulos N, Tommerup N, Larsen LA. Zhang L, et al. Among authors: tommerup n. Eur J Hum Genet. 2009 Aug;17(8):1010-8. doi: 10.1038/ejhg.2008.269. Epub 2009 Jan 28. Eur J Hum Genet. 2009. PMID: 19172993 Free PMC article.
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. Halgren C, et al. Among authors: tommerup n. Clin Genet. 2012 Sep;82(3):248-55. doi: 10.1111/j.1399-0004.2011.01755.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801163 Free PMC article.
346 results