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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 2 |
2010 | 1 |
2011 | 1 |
2012 | 2 |
2019 | 1 |
2024 | 0 |
Search Results
7 results
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Page 1
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
Hum Mutat. 2010 Jan;31(1):5-10. doi: 10.1002/humu.21129.
Hum Mutat. 2010.
PMID: 19842212
Free PMC article.
Review.
Standard screening methods underreport AAV-mediated transduction and gene editing.
Lang JF, Toulmin SA, Brida KL, Eisenlohr LC, Davidson BL.
Lang JF, et al.
Nat Commun. 2019 Jul 30;10(1):3415. doi: 10.1038/s41467-019-11321-7.
Nat Commun. 2019.
PMID: 31363095
Free PMC article.
Item in Clipboard
Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines.
Zhang Z, Liu J, Kaur M, Krantz ID.
Zhang Z, et al.
Genomics. 2012 Apr;99(4):209-19. doi: 10.1016/j.ygeno.2012.01.002. Epub 2012 Jan 15.
Genomics. 2012.
PMID: 22269447
Free PMC article.
Item in Clipboard
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.
Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG.
Schrier SA, et al.
Am J Med Genet A. 2011 Dec;155A(12):3007-24. doi: 10.1002/ajmg.a.34329. Epub 2011 Nov 8.
Am J Med Genet A. 2011.
PMID: 22069164
Free PMC article.
Review.
Item in Clipboard
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID.
Liu J, et al.
Hum Mutat. 2009 Nov;30(11):1535-42. doi: 10.1002/humu.21095.
Hum Mutat. 2009.
PMID: 19701948
Free PMC article.
Item in Clipboard
Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.
Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID.
Chatfield KC, et al.
Am J Med Genet A. 2012 Oct;158A(10):2499-505. doi: 10.1002/ajmg.a.35582. Epub 2012 Sep 10.
Am J Med Genet A. 2012.
PMID: 22965847
Free PMC article.
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Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.
Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD.
Kawauchi S, et al.
PLoS Genet. 2009 Sep;5(9):e1000650. doi: 10.1371/journal.pgen.1000650. Epub 2009 Sep 18.
PLoS Genet. 2009.
PMID: 19763162
Free PMC article.
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