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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
Nat Genet. 2004 Jun;36(6):636-41. doi: 10.1038/ng1363. Epub 2004 May 16.
Nat Genet. 2004.
PMID: 15146185
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T.
Tonkin ET, et al.
Hum Genet. 2004 Jul;115(2):139-48. doi: 10.1007/s00439-004-1134-6. Epub 2004 May 27.
Hum Genet. 2004.
PMID: 15168106
Free PMC article.
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Identification and characterisation of novel mammalian homologues of Drosophila polyhomeoticpermits new insights into relationships between members of the polyhomeotic family.
Tonkin E, Hagan DM, Li W, Strachan T.
Tonkin E, et al.
Hum Genet. 2002 Oct;111(4-5):435-42. doi: 10.1007/s00439-002-0814-3. Epub 2002 Aug 21.
Hum Genet. 2002.
PMID: 12384788
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Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L.
Krantz ID, et al.
Am J Med Genet. 2001 Jun 15;101(2):120-9.
Am J Med Genet. 2001.
PMID: 11391654
Free PMC article.
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Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022).
Thomas J, Keels J, Calzone KA, Badzek L, Dewell S, Patch C, Tonkin ET, Dwyer AA.
Thomas J, et al. Among authors: tonkin et.
Genes (Basel). 2023 Oct 27;14(11):2013. doi: 10.3390/genes14112013.
Genes (Basel). 2023.
PMID: 38002957
Free PMC article.
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"Walking in Their Shoes": The effects of an immersive digital story intervention on empathy in nursing students.
Yu J, Parsons GS, Lancastle D, Tonkin ET, Ganesh S.
Yu J, et al. Among authors: tonkin et.
Nurs Open. 2021 Sep;8(5):2813-2823. doi: 10.1002/nop2.860. Epub 2021 Mar 20.
Nurs Open. 2021.
PMID: 33743185
Free PMC article.
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The first competency based framework in genetics/genomics specifically for midwifery education and practice.
Tonkin ET, Skirton H, Kirk M.
Tonkin ET, et al.
Nurse Educ Pract. 2018 Nov;33:133-140. doi: 10.1016/j.nepr.2018.08.015. Epub 2018 Sep 14.
Nurse Educ Pract. 2018.
PMID: 30296725
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