Zobrazeno 1 - 1
of 1
pro vyhledávání: '"L S Penney"'
Autor:
Gail E. Graham, David A. Dyment, Chandree L. Beaulieu, Sara L. Sawyer, Mark A. Tarnopolsky, Jane Green, Patrick Frosk, Julie Richer, Victoria Mok Siu, Constantin Polychronakos, Jacques L. Michaud, Francois P. Bernier, Mark E. Samuels, A.M. Innes, Ordan J. Lehmann, Michael T. Geraghty, Taila Hartley, Dennis E. Bulman, Jacek Majewski, Gabriella Horvath, Guy A. Rouleau, Geneviève Bernard, Sarah M. Nikkel, Farah R. Zahir, Aneal Khan, Amanda C. Smith, H M Bedford, Elise Héon, Johnny Deladoëy, Robert M. Gow, L S Penney, Kym M. Boycott, William T. Gibson, Oksana Suchowersky, Bridget A. Fernandez, Roberto Mendoza-Londono, Jeremy Schwartzentruber, Brenda Gerull, Raymond H. Kim, Robert K. Koenekoop, Bernard Brais, Grace Yoon, David Chitayat, Nada Jabado, J. Warman Chardon
Publikováno v:
Clinical Genetics
An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis of disease for 25-40% of patients. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::693639937bc57ca4fbe1d2a63399ceff
http://europepmc.org/articles/PMC5053223
http://europepmc.org/articles/PMC5053223
