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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 experience.
Faas, Brigitte H W; Westra, Dineke; de Munnik, Sonja A; van Rij, Maartje; Marcelis, Carlo; Joosten, Sara; Krapels, Ingrid; Vernimmen, Vivian; Heijligers, Malou; Willemsen, Marjolein H; de Leeuw, Nicole; Rinne, Tuula; Pfundt, Rolph; Smeekens, Sanne P; Stegmann, Sander P A; Macville, Merryn; Sikkel, Esther; Coumans, Audrey; Wijnberger, Lia; Derks, Irma; van Lent-Albrechts, Josefa; Hofste, Tom; Timmermans, Raoul; van den End, Janneke; Stevens, Servi J C; Feenstra, Ilse.
Afiliación
  • Faas BHW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Westra D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Munnik SA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Rij M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Joosten S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Krapels I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Willemsen MH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Stegmann SPA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Macville M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Sikkel E; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Coumans A; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wijnberger L; Department of Obstetrics and Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Derks I; Department of Obstetrics and Gynaecology, Rijnstate Hospital, Arnhem, The Netherlands.
  • van Lent-Albrechts J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hofste T; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Timmermans R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den End J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Stevens SJC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Feenstra I; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Prenat Diagn ; 43(4): 527-543, 2023 04.
Article en En | MEDLINE | ID: mdl-36647814
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Feto Límite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Feto Límite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos