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Material Type: Artigo
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All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experienceFaas, Brigitte H. W. ; Westra, Dineke ; Munnik, Sonja A. ; Rij, Maartje ; Marcelis, Carlo ; Joosten, Sara ; Krapels, Ingrid ; Vernimmen, Vivian ; Heijligers, Malou ; Willemsen, Marjolein H. ; Leeuw, Nicole ; Rinne, Tuula ; Pfundt, Rolph ; Smeekens, Sanne P. ; Stegmann, Sander P. A. ; Macville, Merryn ; Sikkel, Esther ; Coumans, Audrey ; Wijnberger, Lia ; Derks, Irma ; Lent‐Albrechts, Josefa ; Hofste, Tom ; Timmermans, Raoul ; End, Janneke ; Stevens, Servi J. C. ; Feenstra, IlsePrenatal diagnosis, 2023-04, Vol.43 (4), p.527-543 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |