Works matching IS 01973851 AND DT 2016 AND VI 36

Results: 230
    1

    Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

    Published in:
    2016
    By:
    • Miguet, Marguerite;
    • Thevenon, Julien;
    • Laugel, Vincent;
    • Lefebvre, Mathilde;
    • Bourchany, Aurélie;
    • Rivière, Jean‐Baptiste;
    • Duffourd, Yannis;
    • Schaefer, Elise;
    • Antal, Maria Cristina;
    • Abida, Rosalie;
    • Weingertner, Anne‐Sophie;
    • Kremer, Valérie;
    • Vabres, Pierre;
    • Morice‐Picard, Fanny;
    • Gonzales, Marie;
    • Lipsker, Dan;
    • Fraitag, Sylvie;
    • Mandel, Jean‐Louis;
    • Chelly, Jamel;
    • Dollfus, Hélène
    Publication type:
    journal article
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    Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study.

    Published in:
    2016
    By:
    • Nishiyama, Miyuki;
    • Sekizawa, Akihiko;
    • Ogawa, Kohei;
    • Sawai, Hideaki;
    • Nakamura, Hiroaki;
    • Samura, Osamu;
    • Suzumori, Nobuhiro;
    • Nakayama, Setsuko;
    • Yamada, Takahiro;
    • Ogawa, Masaki;
    • Katagiri, Yukiko;
    • Murotsuki, Jun;
    • Okamoto, Yoko;
    • Namba, Akira;
    • Hamanoue, Haruka;
    • Ogawa, Masanobu;
    • Miura, Kiyonori;
    • Izumi, Shunichiro;
    • Kamei, Yoshimasa;
    • Sago, Haruhiko
    Publication type:
    journal article
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    Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.

    Published in:
    2016
    By:
    • Schendel, Rachèl V.;
    • Page‐Christiaens, G. C. (Lieve);
    • Beulen, Lean;
    • Bilardo, Catia M.;
    • Boer, Marjon A.;
    • Coumans, Audrey B. C.;
    • Faas, Brigitte H.;
    • Langen, Irene M.;
    • Lichtenbelt, Klaske D.;
    • Maarle, Merel C.;
    • Macville, Merryn V. E.;
    • Oepkes, Dick;
    • Pajkrt, Eva;
    • Henneman, Lidewij;
    • van Schendel, Rachèl V;
    • Page-Christiaens, G C Lieve;
    • de Boer, Marjon A;
    • van Langen, Irene M;
    • van Maarle, Merel C;
    • Dutch NIPT Consortium
    Publication type:
    journal article
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    Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.

    Published in:
    2016
    By:
    • Oepkes, Dick;
    • Page‐Christiaens, G. C. (Lieve);
    • Bax, Caroline J.;
    • Bekker, Mireille N.;
    • Bilardo, Catia M.;
    • Boon, Elles M. J.;
    • Schuring‐Blom, G. Heleen;
    • Coumans, Audrey B. C.;
    • Faas, Brigitte H.;
    • Galjaard, Robert‐Jan H.;
    • Go, Attie T.;
    • Henneman, Lidewij;
    • Macville, Merryn V. E.;
    • Pajkrt, Eva;
    • Suijkerbuijk, Ron F.;
    • Huijsdens‐van Amsterdam, Karin;
    • Van Opstal, Diane;
    • Verweij, E. J. (Joanne);
    • Weiss, Marjan M.;
    • Sistermans, Erik A.
    Publication type:
    journal article
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    Cover Image, Volume 36, Issue 13.

    Published in:
    Prenatal Diagnosis, 2016, v. 36, n. 13, p. i, doi. 10.1002/pd.4750
    By:
    • Jarvis, Deborah;
    • Akram, Rahim;
    • Mandefield, Laura;
    • Paddock, Michael;
    • Armitage, Paul;
    • Griffiths, Paul D.
    Publication type:
    Article
    18

    Issue Information.

    Published in:
    Prenatal Diagnosis, 2016, v. 36, n. 13, p. 1159, doi. 10.1002/pd.4751
    Publication type:
    Article
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    Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

    Published in:
    2016
    By:
    • Tessier, Aude;
    • Sarreau, Mélie;
    • Pelluard, Fanny;
    • André, Gwenaelle;
    • Blesson, Sophie;
    • Bucourt, Martine;
    • Dechelotte, Pierre;
    • Faivre, Laurence;
    • Frébourg, Thierry;
    • Goldenberg, Alice;
    • Goua, Valérie;
    • Jeanne‐Pasquier, Corinne;
    • Guimiot, Fabien;
    • Laquerriere, Annie;
    • Laurent, Nicole;
    • Lefebvre, Mathilde;
    • Loget, Philippe;
    • Maréchaud, Martine;
    • Mechler, Charlotte;
    • Perez, Marie‐Josée
    Publication type:
    journal article
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    Cover Image, Volume 36, Issue 10.

    Published in:
    Prenatal Diagnosis, 2016, v. 36, n. 11, p. i, doi. 10.1002/pd.4746
    By:
    • Whitehead, Clare L.;
    • Walker, Susan P.;
    • Tong, Stephen
    Publication type:
    Article
    36

    Issue Information.

    Published in:
    Prenatal Diagnosis, 2016, v. 36, n. 11, p. 989, doi. 10.1002/pd.4747
    Publication type:
    Article
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    Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.

    Published in:
    2016
    By:
    • Breman, Amy M.;
    • Chow, Jennifer C.;
    • U'Ren, Lance;
    • Normand, Elizabeth A.;
    • Qdaisat, Sadeem;
    • Zhao, Li;
    • Henke, David M.;
    • Chen, Rui;
    • Shaw, Chad A.;
    • Jackson, Laird;
    • Yang, Yaping;
    • Vossaert, Liesbeth;
    • Needham, Rachel H. V.;
    • Chang, Elizabeth J.;
    • Campton, Daniel;
    • Werbin, Jeffrey L.;
    • Seubert, Ron C.;
    • Van den Veyver, Ignatia B.;
    • Stilwell, Jackie L.;
    • Kaldjian, Eric P.
    Publication type:
    journal article
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    Cover Image, Volume 36, Issue 10.

    Published in:
    Prenatal Diagnosis, 2016, v. 36, n. 10, p. i, doi. 10.1002/pd.4744
    By:
    • Cordier, Anne‐Gael;
    • Fuchs, Florent;
    • Tassin, Mikael;
    • Saada, Julien;
    • Letourneau, Alexandra;
    • Brisset, Sophie;
    • Mandelbrot, Laurent;
    • Bidat, Laurent;
    • Benachi, Alexandra
    Publication type:
    Article