Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Nichole Owen"'
Autor:
Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background The RPGR gene has been associated with X‐linked cone‐rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel‐based testing and thus g
Externí odkaz:
https://doaj.org/article/644af10dc66f4c1cac283df6900e335b
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101183- (2024)
Externí odkaz:
https://doaj.org/article/1ccc285513f0404e9c51cfb826cc76ba
P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome
Autor:
Liesbeth Vossaert, Nichole Owen, Hongzheng Dai, Eric Kao, Xiaonan Zhao, Seema Lalani, Monika Weisz-Hubshman, Lorraine Potocki, Elizabeth Mizerik
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101193- (2024)
Externí odkaz:
https://doaj.org/article/1f97bb476f874e2483a8b47ba7be0baf
Autor:
Emily Waskow, Elizabeth Mizerik, Nichole Owen, Matthew Hoi Kin Chau, Rachel Franciskovich, Kevin Glinton, Keren Machol
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101275- (2024)
Externí odkaz:
https://doaj.org/article/041eafb9fda04afb925eb309f22aa7a6
Autor:
Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101394- (2024)
Externí odkaz:
https://doaj.org/article/5dca2f1197f241059f8b41cb53e86b74
Autor:
Matthew Hoi Kin Chau, Stephanie Anderson, Rodger Song, Lance Cooper, Patricia Ward, Bo Yuan, Pawel Stankiewicz, Sau Cheung, Liesbeth Vossaert, Yue Wang, Nichole Owen, Janice Smith, Carlos Bacino, Katharina Schulze, Weimin Bi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101499- (2024)
Externí odkaz:
https://doaj.org/article/bce850404ed549388279422f52c170fd
Autor:
Katharina Schulze, Matthew Hoi Kin Chau, Hongzheng Dai, Elizabeth Mizerik, Keren Machol, Nichole Owen
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101573- (2024)
Externí odkaz:
https://doaj.org/article/2d3525edf547400ab967af67e292d201
Autor:
Amir Hossein Saeidian, Liesbeth Vossaert, Elizabeth Mizerik, Wilson CW. Wu, Hongzheng Dai, Nichole Owen, Janice Smith, Linyan Meng, Christine Eng, Fan Xia, Weimin Bi, Xiaonan Zhao
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101586- (2024)
Externí odkaz:
https://doaj.org/article/fb7cc4c66cfe4993b4c50d1d4c9a4fb9
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101604- (2024)
Externí odkaz:
https://doaj.org/article/a87bd291374b4c39933d838330324241
Autor:
Casey Thornton, Nichole Owen, Elizabeth Mizerik, Chelsi Rose, Seema Lalani, Emily Waskow, Keren Machol
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101605- (2024)
Externí odkaz:
https://doaj.org/article/d671b7b1b9804428808108d39ecdc717