Works matching IS 01973851 AND DT 2020 AND VI 40 AND IP 10


Results: 18
    1

    A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

    Published in:
    Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1300, doi. 10.1002/pd.5781
    By:
    • Corsten‐Janssen, Nicole;
    • Bouman, Katelijne;
    • Diphoorn, Janouk C. D.;
    • Scheper, Arjen J.;
    • Kinds, Rianne;
    • Mecky, Julia;
    • Breet, Hanna;
    • Verheij, Joke B. G. M.;
    • Suijkerbuijk, Ron;
    • Duin, Leonie K.;
    • Manten, Gwendolyn T. R.;
    • Langen, Irene M.;
    • Sijmons, Rolf H.;
    • Sikkema‐Raddatz, Birgit;
    • Westers, Helga;
    • Diemen, Cleo C.
    Publication type:
    Article
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    Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.

    Published in:
    2020
    By:
    • Van Opstal, Diane;
    • Eggenhuizen, Geerke M.;
    • Joosten, Marieke;
    • Diderich, Karin;
    • Govaerts, Lutgarde;
    • Galjaard, Robert‐Jan;
    • Go, Attie;
    • Knapen, Maarten;
    • Boter, Marjan;
    • Cheung, Wai Y.;
    • Koetsveld, Nicole;
    • Veen, Stefanie;
    • Valk, Walter G.;
    • Jehee, Fernanda;
    • Vries, Femke;
    • Hollink, Iris;
    • Hoefsloot, Lies;
    • Srebniak, Malgorzata;
    • Galjaard, Robert-Jan;
    • van Koetsveld, Nicole
    Publication type:
    Case Study
    8

    Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

    Published in:
    2020
    By:
    • Arjunan, Aishwarya;
    • Bellerose, Holly;
    • Torres, Raul;
    • Ben‐Shachar, Rotem;
    • Hoffman, Jodi D.;
    • Angle, Brad;
    • Slotnick, Robert Nathan;
    • Simpson, Brittany N.;
    • Lewis, Andrea M.;
    • Magoulas, Pilar L.;
    • Bontempo, Kelly;
    • Schulze, Jeanine;
    • Tarpinian, Jennifer;
    • Bucher, Jessica A.;
    • Dineen, Richard;
    • Goetsch, Allison;
    • Lazarin, Gabriel A.;
    • Johansen Taber, Katherine;
    • Ben-Shachar, Rotem
    Publication type:
    journal article
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    Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study.

    Published in:
    Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1272, doi. 10.1002/pd.5751
    By:
    • Muys, Joke;
    • Jacquemyn, Yves;
    • Blaumeiser, Bettina;
    • Bourlard, Laura;
    • Brison, Nathalie;
    • Bulk, Saskia;
    • Chiarappa, Patrizia;
    • De Leener, Anne;
    • De Rademaeker, Marjan;
    • Désir, Julie;
    • Destrée, Anne;
    • Devriendt, Koenraad;
    • Dheedene, Annelies;
    • Duquenne, Armelle;
    • Fieuw, Annelies;
    • Fransen, Erik;
    • Gatot, Jean‐Stéphane;
    • Jamar, Mauricette;
    • Janssens, Sandra;
    • Kerstjens, Jorien
    Publication type:
    Article
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    Issue Information.

    Published in:
    Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1201, doi. 10.1002/pd.5490
    Publication type:
    Article