Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Seema Lalani"'
Autor:
Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Yishay Ben-Moshe, Seema Lalani, Daryl Scott, Fernando Scaglia, Keren Machol, Mir Reza Bekheirnia
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100927- (2024)
Externí odkaz:
https://doaj.org/article/78dbece0397e426189c3a426106e6aae
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:
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:
Blake Vuocolo, Roberta Sierra, Dan Brooks, Kent Carter, Keila Rodriguez, Lori Berry, Ana Hernandez, Christopher Holder, Lauren Urbanski, Jose Gamez Godoy, Surya Mulukutla, Segundo Lizardo-Guzman, Humberto Hidalgo, Alberto Allegre, Sandy Magallan, Sarah Rodriguez, Claudia Soler-Alfonso, Hongzheng Dai, Brendan Lee, Seema Lalani
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101412- (2024)
Externí odkaz:
https://doaj.org/article/8a9a41cd214e4b8f86469ded0723ea4d
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
Autor:
Dan Brooks, Elizabeth Mizerik, Liesbeth Vossaert, Seema Lalani, Monika Weisz-Hubshman, Lorraine Potocki, Laurie Robak
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101785- (2024)
Externí odkaz:
https://doaj.org/article/5eb0e2b05a5446448e3c77f73a75f647
Autor:
Vittoria Rossi, Xi Luo, Kristin Cardiel Nunez, Ruiyang Yi, Elizabeth Mizerik, Lauren Westerfield, Seema Lalani, Mir Reza Bekheirnia
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100312- (2023)
Externí odkaz:
https://doaj.org/article/5cb690fc18974b65bcdd22ffb3713484
Autor:
Dan Brooks, Blake Vuocolo, Roberta Sierra, Christopher Holder, Lauren Urbanski, Lori Berry, Segundo Lizardo-Guzman, Ana Hernandez, Jose Gamez Godoy, Surya Mulukutla, Hongzheng Dai, Brendan Lee, Claudia Soler-Alfonso, Kent Carter, Seema Lalani
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100410- (2023)
Externí odkaz:
https://doaj.org/article/bba35fe56e274a63942bfc419080e5b7
Autor:
Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia A. Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice L. Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of copy number variants (CNVs) using ES data remains challenging. The purpose
Externí odkaz:
https://doaj.org/article/18841bbcba8a49ae8983651c935dcc11
Autor:
Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological
Externí odkaz:
https://doaj.org/article/d24638f2efce49c3b8ea400cc414438d