Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Irma Derks"'
Autor:
Brigitte H. W. Faas, Dineke Westra, Sonja A. de Munnik, Maartje van Rij, Carlo Marcelis, Sara Joosten, Ingrid Krapels, Vivian Vernimmen, Malou Heijligers, Marjolein H. Willemsen, Nicole de Leeuw, Tuula Rinne, Rolph Pfundt, Sanne P. Smeekens, Sander P. A. Stegmann, Merryn Macville, Esther Sikkel, Audrey Coumans, Lia Wijnberger, Irma Derks, Josefa van Lent‐Albrechts, Tom Hofste, Raoul Timmermans, Janneke van den End, Servi J. C. Stevens, Ilse Feenstra
Publikováno v:
Prenatal Diagnosis, 43, 4, pp. 527-543
Item does not contain fulltext OBJECTIVE: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff20fc016efd9f79192f4c93948282e7
https://doi.org/10.1002/pd.6314
https://doi.org/10.1002/pd.6314
Autor:
Irma Derks-Prinsen, Ingrid Gomes, Ellen Kater-Baats, Simone van den Heuvel, Djie Tjwan Thung, Brigitte H. W. Faas, Wendy van Rens-Buijsman, Kornelia Neveling, Lean Beulen, Hanneke Mieloo
Publikováno v:
Prenatal Diagnosis. 36:216-223
Objective To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. Methods A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47b7bc61564592e3fc57f9a6036a0273
https://doi.org/10.1002/pd.4777
https://doi.org/10.1002/pd.4777
Autor:
Kornelia, Neveling, Djie, Tjwan Thung, Lean, Beulen, Wendy, van Rens-Buijsman, Ingrid, Gomes, Simone, van den Heuvel, Hanneke, Mieloo, Irma, Derks-Prinsen, Ellen, Kater-Baats, Brigitte H W, Faas
Publikováno v:
Prenatal diagnosis. 36(3)
To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations.A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f7b781f34f64ddb38c1f73c30f32ecb4
https://pubmed.ncbi.nlm.nih.gov/26774010
https://pubmed.ncbi.nlm.nih.gov/26774010