Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Talkowski ME; Ordulu Z; Pillalamarri V; Benson CB; Blumenthal I; Connolly S; Hanscom C; Hussain N; Pereira S; Picker J; Rosenfeld JA; Shaffer LG; Wilkins-Haug LE; Gusella JF; Morton CC; The New England Journal Of Medicine, 2012, vol. 367, issue 23, p 2226, ISSN 15334406. ISBN 15334406.
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