Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Justyna Osinska"'
Autor:
Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e51292 (2012)
Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders. While in rare disorders this allowed the identification of novel caus
Externí odkaz:
https://doaj.org/article/a5b135f4e56341478420eb0c8b20e8d2
Autor:
John Hardy, Philip L. Beales, Sanjay M. Sisodiya, Justyna Osinska, Sebahattin Cirak, Julie Williams, Veronica A. Kinsler, Donna S. Mackay, Jane C. Sowden, Gian Paolo Tonini, John Anderson, John C. Achermann, Francesco Lescai, UM Sheerin, David P. Kelsell, Tom Vulliamy, Mike Hubank, Denise Harold, Henry Houlden, Silvia Bonfiglio, Aoife M. Waters, Khalid Hussain, Robert Kleta, Elia Stupka, Estelle Chanudet, Dalia Kasperavičiūtė, Richard D. Williams, Nicholas W. Wood, Chiara Bacchelli, Tony Brooks
Publikováno v:
PLoS ONE; Vol 7
PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e51292 (2012)
Lescai, F, Bonfiglio, S, Bacchelli, C, Chanudet, E, Waters, A, Sisodiya, S M, Kasperavičiūtė, D, Williams, J, Harold, D, Hardy, J, Kleta, R, Cirak, S, Williams, A R, Achermann, J C, Anderson, J, Kelsell, D, Vulliamy, T, Houlden, H, Wood, N, Sheerin, U, Tonini, G P, Mackay, D, Hussain, K, Sowden, J, Kinsler, V, Osinska, J, Brooks, T, Hubank, M, Beales, P & Stupka, E 2012, ' Characterisation and validation of insertions and deletions in 173 patient exomes ', P L o S One, vol. 7, no. 12, pp. e51292 . https://doi.org/10.1371/journal.pone.0051292
PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e51292 (2012)
Lescai, F, Bonfiglio, S, Bacchelli, C, Chanudet, E, Waters, A, Sisodiya, S M, Kasperavičiūtė, D, Williams, J, Harold, D, Hardy, J, Kleta, R, Cirak, S, Williams, A R, Achermann, J C, Anderson, J, Kelsell, D, Vulliamy, T, Houlden, H, Wood, N, Sheerin, U, Tonini, G P, Mackay, D, Hussain, K, Sowden, J, Kinsler, V, Osinska, J, Brooks, T, Hubank, M, Beales, P & Stupka, E 2012, ' Characterisation and validation of insertions and deletions in 173 patient exomes ', P L o S One, vol. 7, no. 12, pp. e51292 . https://doi.org/10.1371/journal.pone.0051292
Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders. While in rare disorders this allowed the identification of novel caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9969b5a192f2db09dca0fa9ae9eac055