Zobrazeno 1 - 10
of 729
pro vyhledávání: '"Wapner, RJ"'
Autor:
Dar, P, Jacobson, B, MacPherson, C, Egbert, M, Malone, F, Wapner, RJ, Roman, AS, Khalil, A, Faro, R, Madankumar, R, Edwards, L, Haeri, S, Silver, R, Vohra, N, Hyett, J, Clunie, G, Demko, Z, Martin, K, Rabinowitz, M, Flood, K, Carlsson, Y, Doulaveris, G, Malone, C, Hallingstrom, M, Klugman, S, Clifton, R, Kao, C, Hakonarson, H, Norton, ME
BACKGROUND: Cell-free DNA (cfDNA) non-invasive prenatal screening for trisomy (T) 21, 18, and 13 has been rapidly adopted into clinical practice. However, prior studies are limited by lack of follow up genetic testing to confirm outcomes and accurate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f7658f35c2d13f40d81de6d2950c217b
https://openaccess.sgul.ac.uk/id/eprint/114138/1/1-s2.0-S0002937822000412-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/114138/1/1-s2.0-S0002937822000412-main.pdf
Autor:
Mellis, R, Eberhardt, RY, Hamilton, SJ, PAGE Consortium, McMullan, DJ, Kilby, MD, Maher, ER, Hurles, ME, Giordano, JL, Aggarwal, V, Goldstein, DB, Wapner, RJ, Chitty, LS
Funder: National Institute for Health Research (NIHR) Biomedical Research Centre, Great Ormond Street Hospital; Id: http://dx.doi.org/10.13039/501100019256
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d927ba68607661de24123e35265fd97
https://www.repository.cam.ac.uk/handle/1810/327974
https://www.repository.cam.ac.uk/handle/1810/327974
Autor:
Mone, F, Eberhardt, RY, Hurles, ME, Mcmullan, DJ, Maher, ER, Lord, J, Chitty, LS, Dempsey, E, Homfray, T, Giordano, JL, Wapner, RJ, Sun, L, Sparks, TN, Norton, ME, Kilby, MD
OBJECTIVE: To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF). METHODS: A prospective cohort study (comprising an extended gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c94342afc479c71541ed3bbb40f01394
Autor:
Mone, F, Eberhardt, RY, Morris, RK, Hurles, ME, McMullan, DJ, Maher, ER, Lord, J, Chitty, LS, Giordano, JL, Wapner, RJ, Kilby, MD, CODE Study Collaborators
OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A prospective cohort study of 197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d2066530d2476b9af46cf720f84d37
https://www.repository.cam.ac.uk/handle/1810/310143
https://www.repository.cam.ac.uk/handle/1810/310143
Autor:
Wapner Rj, Jenkins Tm
Publikováno v:
New England Journal of Medicine. 341:1935-1937
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::890166f1ac71d4bfac28da04770139a8
https://doi.org/10.1056/nejm199912163412513
https://doi.org/10.1056/nejm199912163412513
Autor:
Ananth, CV, Lavery, JA, Friedman, AM, Wapner, RJ, Wright, JD, Ananth, C V, Lavery, J A, Friedman, A M, Wapner, R J, Wright, J D
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; Jul2017, Vol. 124 Issue 8, p1246-1253, 8p
Autor:
Abramovici, A, Gandley, RE, Clifton, RG, Leveno, KJ, Myatt, L, Wapner, RJ, Thorp, JM, Mercer, BM, Peaceman, AM, Samuels, P, Sciscione, A, Harper, M, Saade, G, Sorokin, Y, Gandley, R E, Clifton, R G, Leveno, K J, Wapner, R J, Thorp, J M Jr, Mercer, B M
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; Dec2015, Vol. 122 Issue 13, p1740-1747, 8p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.