Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kathryn Curry"'
Autor:
Kathryn Curry, Natalie Syverud, Anna McGill, Jeffrey Bissonnette, Jane Beckwell, Elizabeth Wiley, Mark Kiel
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101146- (2024)
Externí odkaz:
https://doaj.org/article/e0f50fedb8f848acb71f10aabc4cd1a3
Autor:
Quinn Stein, Maggie Westemeyer, Tarek Darwish, Tessa Pitman, Megan Hager, Hossein Tabriziani, Kathryn Curry, Kathleen Collett, Darbey Raible, Emily Hendricks
Publikováno v:
Kidney Medicine, Vol 5, Iss 7, Pp 100668- (2023)
As genetic testing is increasingly integrated into nephrology practice there is a growing need for partnership with genetic experts. Genetic counselors are ideally suited to fill this role. The value of genetic counseling is born out of the clinical
Externí odkaz:
https://doaj.org/article/06f6c9e3aa96427dbeeb7d7970d3ad0d
Autor:
Kathryn Curry, Meg Hager, Akash Anand, Maggie Westermeyer, Emily Hendricks, Tessa Pitman, Kathleen Collett, Quinn Stein, Sumit Punj
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100137- (2023)
Externí odkaz:
https://doaj.org/article/a02ac8626530408994895e6bc8c52343
Autor:
Lei Wang, Mauricio R. Delgado, Margarita Saenz, Hongzheng Dai, Daryl A. Scott, Kathryn Curry, Bo Yuan, Anh Dang, Wenmiao Zhu, John Lattier, Rui Xiao, Suneeta Madan-Khetarpal, Linyan Meng, Tiana M. Scott, Pilar L. Magoulas, Haley Streff, Jessica Sebastian, Jill A. Rosenfeld, Haowei Du, Seema R. Lalani, James R. Lupski, Jennifer E. Posey, Ronit Marom, Vipulkumar Patel, Weimin Bi, Neil A. Hanchard, Chun-An Chen, Shayna Svihovec, Pengfei Liu, Fan Xia, Christine M. Eng
Publikováno v:
Genet Med
PURPOSE: The BRG1/BRM-associated factor (BAF) complex is a chromatin remodeling complex playing a critical role in gene regulation. Defects in the genes encoding the BAF subunits lead to BAFopathies, a group of neurodevelopmental disorders with exten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05592fed7a1530f5c5f05dde2d8fd381
https://doi.org/10.1016/j.gim.2021.09.017
https://doi.org/10.1016/j.gim.2021.09.017
Autor:
Alma Kuechler, Amanda Openshaw, Stephen P. Robertson, Siddharth Srivastava, Bo Hong, Leah R Fleming, Cheryl Dickerson, Lindsay C. Swanson, Kathryn Curry, Rami A. Ballout, Najla Al-Sweel, Myra J. Wick, Nuria C. Bramswig, Ayman W. El-Hattab, Erica F. Andersen
Publikováno v:
Hum Mutat
Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e0be034c3119b8ef59945e2af31da28
https://doi.org/10.1002/humu.24009
https://doi.org/10.1002/humu.24009
Autor:
Sarah L. Stenton, Marketa Tesarova, Natalia L. Sheremet, Claudia B. Catarino, Valerio Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R. Fleming, Peter Freisinger, Katarzyna Iwanicka-Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary K. Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska-Abramczuk, Sam N. Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch
Publikováno v:
Brain 145, 1624-1631 (2022)
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of Leigh syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2bf87daded9ca23e3b2756c60479a76
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376
Autor:
Mary Kathryn Curry
Publikováno v:
Employment Relations Today. 44:27-31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd1703431007d0d230162494b570c8a4
https://doi.org/10.1002/ert.21653
https://doi.org/10.1002/ert.21653
Autor:
Maryann Mikucki, Joseph Skitzki, Daniel Fisher, Kathryn Curry, John Frelinger, Andrew Luster, Sharon Evans
Publikováno v:
The Journal of Immunology. 190:170.25-170.25
Recent advances in the treatment of metastatic melanoma are designed to promote the cytotoxic CD8 T cell response (e.g., CTLA-4 blockade and adoptive cell transfer), but it remains poorly understood how T cells enter tumor tissues to contact tumor ta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65483b1d89a815c5492cd107b4758c1b
https://doi.org/10.4049/jimmunol.190.supp.170.25
https://doi.org/10.4049/jimmunol.190.supp.170.25