Works matching IS 01973851 AND DT 2013 AND VI 33 AND IP 1


Results: 22
    1
    2
    3
    4
    5
    6
    7
    8

    Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

    Published in:
    2013
    By:
    • Schoner K;
    • Kohlhase J;
    • Müller AM;
    • Schramm T;
    • Plassmann M;
    • Schmitz R;
    • Neesen J;
    • Wieacker P;
    • Rehder H;
    • Schoner, Katharina;
    • Kohlhase, Juergen;
    • Müller, Annette M;
    • Schramm, Thomas;
    • Plassmann, Margit;
    • Schmitz, Ralf;
    • Neesen, Juergen;
    • Wieacker, Peter;
    • Rehder, Helga
    Publication type:
    journal article
    9
    10
    11

    Application of a new molecular technique for the genetic evaluation of products of conception.

    Published in:
    Prenatal Diagnosis, 2013, v. 33, n. 1, p. 32, doi. 10.1002/pd.4004
    By:
    • Grati, Francesca R.;
    • Gomes, Denise Molina;
    • Ganesamoorthy, Devika;
    • Marcato, Livia;
    • De Toffol, Simona;
    • Blondeel, Eleonore;
    • Malvestiti, Francesca;
    • Loeuillet, Laurence;
    • Ruggeri, Anna Maria;
    • Wainer, Robert;
    • Maggi, Federico;
    • Aboura, Azzedine;
    • Dupont, Celine;
    • Tabet, Anne Claude;
    • Guimiot, Fabien;
    • Slater, Howard R.;
    • Simoni, Giuseppe;
    • Vialard, François
    Publication type:
    Article
    12
    13
    14
    15
    16
    17
    18

    The detection of mosaicism by prenatal BoBs™.

    Published in:
    Prenatal Diagnosis, 2013, v. 33, n. 1, p. 42, doi. 10.1002/pd.4006
    By:
    • Cheng, Yvonne K.Y.;
    • Wong, Cherry;
    • Wong, Hoi Kin;
    • Leung, Kwok On;
    • Kwok, Yvonne K.;
    • Suen, Andy;
    • Wang, Chi Chui;
    • Leung, Tak Yeung;
    • Choy, Kwong Wai
    Publication type:
    Article
    19
    21