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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. Spielmann M, et al. Among authors: tayebi n. Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11. Genome Res. 2016. PMID: 26755636 Free PMC article.
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
Tayebi N, Jamsheer A, Flöttmann R, Sowinska-Seidler A, Doelken SC, Oehl-Jaschkowitz B, Hülsemann W, Habenicht R, Klopocki E, Mundlos S, Spielmann M. Tayebi N, et al. Orphanet J Rare Dis. 2014 Jul 29;9:108. doi: 10.1186/s13023-014-0108-6. Orphanet J Rare Dis. 2014. PMID: 25231166 Free PMC article.
Bloom's syndrome in a 12-year-old Iranian girl.
Tayebi N, Khodaei H. Tayebi N, et al. Indian J Hum Genet. 2008 Sep;14(3):103-5. doi: 10.4103/0971-6866.45003. Indian J Hum Genet. 2008. PMID: 20300305 Free PMC article.
Cornelia de lange syndrome.
Tayebi N. Tayebi N. Indian J Hum Genet. 2008 Jan;14(1):23-6. doi: 10.4103/0971-6866.42324. Indian J Hum Genet. 2008. PMID: 20300288 Free PMC article.
123 results