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Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.
Kaalund SS, Venø MT, Bak M, Møller RS, Laursen H, Madsen F, Broholm H, Quistorff B, Uldall P, Tommerup N, Kauppinen S, Sabers A, Fluiter K, Møller LB, Nossent AY, Silahtaroglu A, Kjems J, Aronica E, Tümer Z. Kaalund SS, et al. Among authors: moller lb, moller rs. Epilepsia. 2014 Dec;55(12):2017-27. doi: 10.1111/epi.12839. Epub 2014 Nov 19. Epilepsia. 2014. PMID: 25410734 Free article.
Menkes disease.
Tümer Z, Møller LB. Tümer Z, et al. Among authors: moller lb. Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888294 Free PMC article. Review.
Splice site mutations in the ATP7A gene.
Skjørringe T, Tümer Z, Møller LB. Skjørringe T, et al. Among authors: moller lb. PLoS One. 2011 Apr 11;6(4):e18599. doi: 10.1371/journal.pone.0018599. PLoS One. 2011. PMID: 21494555 Free PMC article.
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: moller lb. Eur J Hum Genet. 2015 Dec;23(12):1646-51. doi: 10.1038/ejhg.2015.54. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804404 Free PMC article.
Clinical expression of Menkes disease in females with normal karyotype.
Møller LB, Lenartowicz M, Zabot MT, Josiane A, Burglen L, Bennett C, Riconda D, Fisher R, Janssens S, Mohammed S, Ausems M, Tümer Z, Horn N, Jensen TG. Møller LB, et al. Orphanet J Rare Dis. 2012 Jan 22;7:6. doi: 10.1186/1750-1172-7-6. Orphanet J Rare Dis. 2012. PMID: 22264391 Free PMC article.
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: moller lb. Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.131. Eur J Hum Genet. 2015. PMID: 26559128 Free PMC article. No abstract available.
127 results