Zobrazeno 1 - 2
of 2
pro vyhledávání: '"John D. Monos"'
Autor:
Jill R. Murrell, Addie May I. Nesbitt, Samuel W. Baker, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H. Denenberg, Elizabeth T. DeChene, Chao Wu, Pushkala Jayaraman, Kajia Cao, Michael Gonzalez, Marcella Devoto, Alessandro Testori, John D. Monos, Matthew C. Dulik, Laura K. Conlin, Minjie Luo, Kristin McDonald Gibson, Qiaoning Guan, Mahdi Sarmady, Elizabeth Bhoj, Ingo Helbig, Elaine H. Zackai, Emma C. Bedoukian, Alisha Wilkens, Jennifer Tarpinian, Kosuke Izumi, Cara M. Skraban, Matthew A. Deardorff, Livija Medne, Ian D. Krantz, Bryan L. Krock, Avni B. Santani
Publikováno v:
The Journal of Molecular Diagnostics. 24:274-286
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d49583b2fd1c4436346a76a80fce3d8
https://doi.org/10.1016/j.jmoldx.2021.12.002
https://doi.org/10.1016/j.jmoldx.2021.12.002
Autor:
Jill R, Murrell, Addie May I, Nesbitt, Samuel W, Baker, Kieran B, Pechter, Jorune, Balciuniene, Xiaonan, Zhao, Elizabeth H, Denenberg, Elizabeth T, DeChene, Chao, Wu, Pushkala, Jayaraman, Kajia, Cao, Michael, Gonzalez, Marcella, Devoto, Alessandro, Testori, John D, Monos, Matthew C, Dulik, Laura K, Conlin, Minjie, Luo, Kristin, McDonald Gibson, Qiaoning, Guan, Mahdi, Sarmady, Elizabeth, Bhoj, Ingo, Helbig, Elaine H, Zackai, Emma C, Bedoukian, Alisha, Wilkens, Jennifer, Tarpinian, Kosuke, Izumi, Cara M, Skraban, Matthew A, Deardorff, Livija, Medne, Ian D, Krantz, Bryan L, Krock, Avni B, Santani
Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic alterations contributing to disease in 700 pediatric cases analyzed at the Children's Hospital o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d01581239134e015d1fc0a4434842a48
http://hdl.handle.net/11573/1631215
http://hdl.handle.net/11573/1631215
