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1تقرير
المؤلفون: Childs, Alexandra J., Mabin, David C., Turnpenny, Peter D.
مصطلحات موضوعية: EEC syndrome, TP63, choanal atresia, ectrodactyly-ectodermal dysplasia-clefting syndrome, rectal stenosis
وصف الملف: application/pdf
العلاقة: https://doi.org/10.1002/ajmg.a.61628Test; Childs AJ, Mabin DC, Turnpenny PD. Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. Am J Med Genet A. 2020 Aug;182(8):1939-1943. doi:10.1002/ajmg.a.61628. Epub 2020 May 31.; https://rde.dspace-express.com/handle/11287/621557Test; American Journal of Medical Genetics. Part A.
الإتاحة: https://doi.org/10.1002/ajmg.a.61628Test
https://rde.dspace-express.com/handle/11287/621557Test -
2تقريرTP63-Mediated Enhancer Reprogramming Drives the Squamous Subtype of Pancreatic Ductal Adenocarcinoma
المؤلفون: Somerville, T. D. D., Xu, Y., Miyabayashi, K., Tiriac, H., Cleary, C. R., Maia-Silva, D., Milazzo, J. P., Tuveson, D. A., Vakoc, C. R.
مصطلحات موضوعية: pancreatic cancer, TP63
وصف الملف: application/pdf
العلاقة: http://repository.cshl.edu/id/eprint/37486/1/2018.Somerville.pdfTest; Somerville, T. D. D., Xu, Y., Miyabayashi, K., Tiriac, H., Cleary, C. R., Maia-Silva, D., Milazzo, J. P., Tuveson, D. A., Vakoc, C. R. (November 2018) TP63-Mediated Enhancer Reprogramming Drives the Squamous Subtype of Pancreatic Ductal Adenocarcinoma. Cell Rep, 25 (7). 1741-1755.e7. ISSN 2211-1247 (Public Dataset)
الإتاحة: https://doi.org/10.1016/j.celrep.2018.10.051Test
http://repository.cshl.edu/id/eprint/37486Test/
http://repository.cshl.edu/id/eprint/37486/1/2018.Somerville.pdfTest
https://www.ncbi.nlm.nih.gov/pubmed/30428345Test -
3تقرير
المؤلفون: Vernersson Lindahl, E., Garcia, E. L., Mills, A. A.
مصطلحات موضوعية: congenital hereditary genetic diseases, EEC syndrome, genes: types, model organism, mouse, TAp63, TP63
العلاقة: Vernersson Lindahl, E., Garcia, E. L., Mills, A. A. (June 2013) An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. American Journal of Medical Genetics Part A, 161 (8). pp. 1961-1971. ISSN 1552-4825
الإتاحة: https://doi.org/10.1002/ajmg.a.36074Test
http://repository.cshl.edu/id/eprint/28389Test/
http://www.ncbi.nlm.nih.gov/pubmed/23775923Test