نتائج البحث - "Giampietro, Philip F"

المصدر: McCarty, Catherine A. and Mukesh, B. N. and Giampietro, Philip F. and Wilke, R. A. (2007) Healthy People 2010 disease prevalence in the Marshfield Clinic Personalized Medicine Research Project cohort: opportunities for public health genomic research. Personalized Medicine, 4 (2). pp. 183-190.

العلاقة: http://www.futuremedicine.com/doi/abs/10.2217/17410541.4.2.183Test; http://health-equity.pitt.edu/1061Test/

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دورية أكاديمية

Marshfield Clinic Personalized Medicine Research Project (PMRP): design, methods and recruitment for a large population-based biobank

المؤلفون: McCarty, Catherine A., Wilke, Russell A., Giampietro, Philip F., Wesbrook, Steve D., Caldwell, Michael D.

المصدر: McCarty, Catherine A. and Wilke, Russell A. and Giampietro, Philip F. and Wesbrook, Steve D. and Caldwell, Michael D. (2005) Marshfield Clinic Personalized Medicine Research Project (PMRP): design, methods and recruitment for a large population-based biobank. Personalized Medicine, 2 (1). pp. 49-71.

العلاقة: http://www.futuremedicine.com/doi/abs/10.1517/17410541.2.1.49Test; http://health-equity.pitt.edu/1060Test/

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دورية أكاديمية

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

المؤلفون: Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard S., Bogenschutz, Eric L., Dysart, Matthew J., Contreras, Hannah T.M., Frénois, Frederic, Pober, Barbara R., Clark, Robin D., Giampietro, Philip F., Ropers, Hilger H., Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David J., Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana M., Calame, Daniel G., Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James R., Shen, Yufeng, Chung, Wendy K., Scott, Daryl A., Bult, Carol J., Donahoe, Patricia K., High, Frances A.

المصدر: The American Journal of Human Genetics ; volume 110, issue 10, page 1787-1803 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.09.002Test
https://api.elsevier.com/content/article/PII:S0002929723003154?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723003154?httpAccept=text/plainTest

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دورية أكاديمية

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

المؤلفون: Alankarage, Dimuthu, Enriquez, Annabelle, Steiner, Robert D., Raggio, Cathy, Higgins, Megan, Milnes, Di, Humphreys, David T., Duncan, Emma L., Sparrow, Duncan B., Giampietro, Philip F., Chapman, Gavin, Dunwoodie, Sally L.

المصدر: Differentiation

مصطلحات موضوعية: Dominant-negative, Myhre syndrome, NKX2-5, SMAD4, TGF/BMP signaling, Transcriptional regulation

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/237300/1/Myhre_AAM.pdfTest; Alankarage, Dimuthu, Enriquez, Annabelle, Steiner, Robert D., Raggio, Cathy, Higgins, Megan, Milnes, Di, Humphreys, David T., Duncan, Emma L., Sparrow, Duncan B., Giampietro, Philip F., Chapman, Gavin, & Dunwoodie, Sally L. (2022) Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation, 128, pp. 1-12.; https://eprints.qut.edu.au/237300Test/; Faculty of Health; School of Biomedical Sciences

الإتاحة: https://doi.org/10.1016/j.diff.2022.09.002Test
https://eprints.qut.edu.au/237300Test/

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