Zobrazeno 1 - 2
of 2
pro vyhledávání: '"David Villanova"'
Publikováno v:
Document Analysis Systems ISBN: 9783031065545
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da8dc573a81a3d8f7037b5984462428a
https://doi.org/10.1007/978-3-031-06555-2_38
https://doi.org/10.1007/978-3-031-06555-2_38
Autor:
Pouria Mashouri, Krish Ohri, Andrés Nascimento Osorio, Ronald D. Cohn, Peiqui Wang, Steven A. Moore, Arun K. Ramani, Katherine D. Mathews, Hernan Gonorazky, James J. Dowling, Michael Brudno, Dwi U. Kemaladewi, Mark A. Tarnopolsky, Senthuri Viththiyapaskaran, David Villanova, Sergey Naumenko, Dennis Kao, Viswateja Nelakuditi
Publikováno v:
American Journal of Human Genetics
Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at best 50%, leaving the genetic basis for disease unsolved in many individuals. New approaches
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdba481592f87c657f80ddf76ab61cd
https://doi.org/10.1016/j.ajhg.2019.01.012
https://doi.org/10.1016/j.ajhg.2019.01.012
