Zobrazeno 1 - 10
of 665
pro vyhledávání: '"Cate, R."'
Autor:
Zalusky, Miranda P.G., Gustafson, Jonas A., Bohaczuk, Stephanie C., Mallory, Ben, Reed, Paxton, Wenger, Tara, Beckman, Erika, Chang, Irene J., Paschal, Cate R., Buchan, Jillian G., Lockwood, Christina M., Puia-Dumitrescu, Mihai, Garalde, Daniel R., Guillory, Joseph, Markham, Androo J., Bamshad, Michael J., Eichler, Evan E., Stergachis, Andrew B., Miller, Danny E.
Publikováno v:
In Genetics in Medicine Open 2024 2
Autor:
Miranda P.G. Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Ben Mallory, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Michael J. Bamshad, Evan E. Eichler, Andrew B. Stergachis, Danny E. Miller
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101833- (2024)
Purpose: Rapid genetic testing in the critical care setting may guide diagnostic evaluation, direct therapies, and help families and care providers make informed decisions about goals of care. We tested whether a simplified DNA extraction and library
Externí odkaz:
https://doaj.org/article/6d44b504cf61496087437a8f47863416
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Kaitlyn Zenner, Dana M. Jensen, Victoria Dmyterko, Giridhar M. Shivaram, Candace T. Myers, Cate R. Paschal, Erin R. Rudzinski, Minh-Hang M. Pham, V. Chi Cheng, Scott C. Manning, Randall A. Bly, Sheila Ganti, Jonathan A. Perkins, James T. Bennett
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100101- (2022)
Summary: Somatic activating variants in PIK3CA, the gene that encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), have been previously detected in ∼80% of lymphatic malformations (LMs).1,2 We report the presence of somatic
Externí odkaz:
https://doaj.org/article/2fb69ded718f4219a8ac5c125d17cbcd
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Radiation Research, 2002 Dec 01. 158(6), 707-714.
Externí odkaz:
https://www.jstor.org/stable/3580731
Autor:
Marquez, Jonathan, Cech, Jennifer N., Paschal, Cate R., Dingmann, Bri, Scott, Anna I., Thies, Jenny M., Mills, Maria R., Albert, Catherine M., Beck, Anita E., Beckman, Erika, Bonkowski, Emily S., Earl, Dawn L., Lam, Christina T., Mefford, Heather C., Merritt, J. Lawrence, II, Nelson, Zoe, Ohlsen, Timothy J.D., Taylor, Mallory R., Perlman, Seth J., Rudzinski, Erin R., Sikes, Megan C., Waligorski, Natalie, Wenger, Tara L., Adam, Margaret P., Mirzaa, Ghayda M., Bennett, James T., Glass, Ian A., Sternen, Darci L., Miller, Danny E.
Publikováno v:
In Genetics in Medicine Open 2024 2
Publikováno v:
Pediatric and Developmental Pathology. 25:581-597
Background Dominant gamma-smooth muscle actin gene ( ACTG2) variants cause clinically diverse forms of visceral myopathy. Many patients undergo intestinal resection or biopsy before identification of their genetic defect. The pathology of ACTG2-varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35d9b786ee95553093c295fb61fb82bb
https://doi.org/10.1177/10935266221107449
https://doi.org/10.1177/10935266221107449
Autor:
Sanicola, M., Hession, C., Worley, D., Carmillo, P., Ehrenfels, C., Walus, L., Robinson, S., Jaworski, G., Wei, H., Tizard, R., Whitty, A., Pepinsky, R. B., Cate, R. L.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1997 Jun 01. 94(12), 6238-6243.
Externí odkaz:
https://www.jstor.org/stable/42341
Autor:
Miranda Galey, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Andrew B. Stergachis, Michael J. Bamshad, Evan E. Eichler, Danny E. Miller
Rapid genetic testing in the critical care setting enables targeted evaluations, directs therapies, and helps families and care providers make informed decisions about goals of care. We tested whether we could perform ultra-rapid assessment of geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb85a1267b4ff7ec6729cb39f946a6d9
https://doi.org/10.1101/2022.09.09.22279746
https://doi.org/10.1101/2022.09.09.22279746
