Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Catherine, Rehder"'
Autor:
Jenny Goldstein, Amber Waddell, Carlos Aschoff, Xiangwen Chen-Deutsch, Matthew Ellinwood, Roberto Mendez, Raquel Fernandez, Deeksha Bali, Troy Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy Wood, Lorne Clarke, Catherine Rehder
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100877- (2024)
Externí odkaz:
https://doaj.org/article/b527ee7bd72c43f48b7b5dc695356788
Autor:
Dona Kanavy, Jenny Goldstein, Filippo Pinto e Vairo, Deeksha Bali, Xiangwen Chen-Deutsch, Taraka Donti, Shelly Goomber, Jennifer McGlaughon, Yinghong Pan, Bryce Seifert, Raquel Fernandez, Emily Kyle, Meredith Weaver, Lorne Clarke, Catherine Rehder
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101599- (2024)
Externí odkaz:
https://doaj.org/article/553edb151f4b4b878ba5e28cde90a06b
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101627- (2024)
Externí odkaz:
https://doaj.org/article/0b5cee6baf2940f7a6f7b8bb8bf40df3
Autor:
Ludmila Francescatto, Benjamin Cocanougher, Kristen Deak, Catherine Rehder, Sarah Rapisardo, Areeg El-Gharbawy, Stefan Rentas
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101652- (2024)
Externí odkaz:
https://doaj.org/article/eb3324468e6f4023a9e24cea622ab8a3
Autor:
Katerina Kucera, Mary Beth Boyea, Brooke Migliore, Veronica Robles, Heidi Cope, Catherine Rehder, Edward Smith, Don Bailey, Holly Peay
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100544- (2023)
Externí odkaz:
https://doaj.org/article/ef5ea804b6024b84ba62d5d37cc47c19
Autor:
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
ABSTRACT Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was
Externí odkaz:
https://doaj.org/article/760a42d7a4b3411d8e613729a17fc702
Autor:
Yue Zhao, Imran Siddiqi, Tyler J Wildes, Jenna McCracken, Kristen Deak, Catherine Rehder, Endi Wang
Publikováno v:
American Journal of Clinical Pathology. 159:337-351
Objectives To evaluate clinicopathologic characteristics of biclonal chronic lymphocytic leukemia (CLL). Methods Retrospectively analyze clinical data and pathologic features. Results Ten cases were identified in which flow cytometry demonstrated an
Autor:
Wen Shuai, Zhuang Zuo, Nianyi Li, Sofia Garces, Fatima Zahra Jelloul, Chi Young Ok, Shaoying Li, Jie Xu, M. James You, Wei Wang, Catherine Rehder, Elias J. Jabbour, Keyur P. Patel, L. Jeffrey Medeiros, C. Cameron Yin
Publikováno v:
Cancer. 129:878-889
ETNK1 mutation has been suggested as a useful tool to support the diagnosis of atypical chronic myeloid leukemia. ETNK1 mutations, however, occur in other myeloid neoplasms.The authors assessed the clinicopathologic and molecular genetic features of
Publikováno v:
Clinical Lymphoma Myeloma and Leukemia. 22:e310-e313
Introduction Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) occasionally undergoes Richter transformation, mostly to diffuse large B-cell lymphoma, but its evolution to other types of B-cell lymphoma is rare. We report a CLL evolve
Autor:
Deeksha S. Bali, Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015)
Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the
Externí odkaz:
https://doaj.org/article/68affffbf1ab48a4b6d3c7d268c57d59