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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.
Nat Genet. 2011.
PMID: 21131976
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
Wieczorek D, Gener B, González MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR.
Wieczorek D, et al. Among authors: seland s.
Am J Med Genet A. 2009 May;149A(5):837-43. doi: 10.1002/ajmg.a.32747.
Am J Med Genet A. 2009.
PMID: 19334086
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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.
Beygo J, Buiting K, Seland S, Lüdecke HJ, Hehr U, Lich C, Prager B, Lohmann DR, Wieczorek D.
Beygo J, et al. Among authors: seland s.
Mol Syndromol. 2012 Jan;2(2):53-59. doi: 10.1159/000335545. Epub 2012 Jan 26.
Mol Syndromol. 2012.
PMID: 22712005
Free PMC article.
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A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
Riehmer V, et al. Among authors: seland s.
Am J Med Genet A. 2017 Aug;173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2.
Am J Med Genet A. 2017.
PMID: 28574232
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IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann T, Binder G, Gromoll J, Prott EC, Seland S, Horsthemke B.
Zeschnigk M, et al. Among authors: seland s.
Eur J Hum Genet. 2008 Mar;16(3):328-34. doi: 10.1038/sj.ejhg.5201974. Epub 2008 Jan 9.
Eur J Hum Genet. 2008.
PMID: 18159214
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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ.
Elsayed SM, et al. Among authors: seland s.
Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23.
Hum Mol Genet. 2015.
PMID: 25616960
Free PMC article.
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Preeclampsia and gestational weight gain in the Norwegian Fit for Delivery trial.
Hillesund ER, Seland S, Bere E, Sagedal LR, Torstveit MK, Lohne-Seiler H, Vistad I, Øverby NC.
Hillesund ER, et al. Among authors: seland s.
BMC Res Notes. 2018 May 8;11(1):282. doi: 10.1186/s13104-018-3396-4.
BMC Res Notes. 2018.
PMID: 29739447
Free PMC article.
Clinical Trial.
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