Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 10

Results: 48
    1
    2

    Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
    By:
    • Tully, Hannah M.;
    • Dempsey, Jennifer C.;
    • Ishak, Gisele E.;
    • Adam, Margaret P.;
    • Curry, Cynthia J.R.;
    • Sanchez-Lara, Pedro;
    • Hunter, Alasdair;
    • Gripp, Karen W.;
    • Allanson, Judith;
    • Cunniff, Christopher;
    • Glass, Ian;
    • Millen, Kathleen J.;
    • Doherty, Daniel;
    • Dobyns, William B.
    Publication type:
    Article
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14

    Immune-mediated disorders among women carriers of fragile X premutation alleles.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2473, doi. 10.1002/ajmg.a.35569
    By:
    • Winarni, Tri Indah;
    • Chonchaiya, Weerasak;
    • Sumekar, Tanjung Ayu;
    • Ashwood, Paul;
    • Morales, Guadalupe Mendoza;
    • Tassone, Flora;
    • Nguyen, Danh V.;
    • Faradz, Sultana M.H.;
    • Van de Water, Judy;
    • Cook, Kylee;
    • Hamlin, Alyssa;
    • Mu, Yi;
    • Hagerman, Paul J.;
    • Hagerman, Randi J.
    Publication type:
    Article
    15
    16

    Trisomy 21 mosaicism and maternal age.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2482, doi. 10.1002/ajmg.a.35571
    By:
    • Morris, Joan K.
    Publication type:
    Article
    17
    18
    19
    20
    21

    Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2412, doi. 10.1002/ajmg.a.35517
    By:
    • Verhagen, Judith M.A.;
    • Diderich, Karin E.M.;
    • Oudesluijs, Grétel;
    • Mancini, Grazia M.S.;
    • Eggink, Alex J.;
    • Verkleij-Hagoort, Anna C.;
    • Groenenberg, Irene A.L.;
    • Willems, Patrick J.;
    • du Plessis, Frederik A.;
    • de Man, Stella A.;
    • Srebniak, Malgorzata I.;
    • van Opstal, Diane;
    • Hulsman, Lorette O.M.;
    • van Zutven, Laura J.C.M.;
    • Wessels, Marja W.
    Publication type:
    Article
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31

    Non-invasive fetal genome sequencing: Opportunities and challenges.

    Published in:
    2012
    By:
    • Tabor, Holly K.;
    • Murray, Jeffrey C.;
    • Gammill, Hilary S.;
    • Kitzman, Jacob O.;
    • Snyder, Matthew W.;
    • Ventura, Mario;
    • Lewis, Alexandra P.;
    • Qiu, Ruolan;
    • Simmons, LaVone E.;
    • Rubens, Craig E.;
    • Santillan, Mark K.;
    • Eichler, Evan E.;
    • Cheng, Edith Y.;
    • Bamshad, Michael J.;
    • Shendure, Jay
    Publication type:
    Editorial
    32

    De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2571, doi. 10.1002/ajmg.a.35556
    By:
    • Cirillo, Emilia;
    • Romano, Rosa;
    • Romano, Alfonso;
    • Giardino, Giuliana;
    • Durandy, Anne;
    • Nitsch, Lucio;
    • Genesio, Rita;
    • Di Gregorio, Eleonora;
    • Cavalieri, Simona;
    • Abate, Giovanna;
    • Del Vecchio, Luigi;
    • Brusco, Alfredo;
    • Pignata, Claudio
    Publication type:
    Article
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47

    Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
    By:
    • Delahaye, Andrée;
    • Khung-Savatovsky, Suonavy;
    • Aboura, Azzedine;
    • Guimiot, Fabien;
    • Drunat, Séverine;
    • Alessandri, Jean-Luc;
    • Gérard, Marion;
    • Bitoun, Pierre;
    • Boumendil, Julien;
    • Robin, Stéphanie;
    • Huel, Chan;
    • Guilherme, Romain;
    • Serero, Stéphane;
    • Gressens, Pierre;
    • Elion, Jacques;
    • Verloes, Alain;
    • Benzacken, Brigitte;
    • Delezoide, Anne-Lise;
    • Pipiras, Eva
    Publication type:
    Article
    48