Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 3

Results: 24
    1

    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
    By:
    • Mina, Erika Della;
    • Ciccone, Roberto;
    • Brustia, Francesca;
    • Bayindir, Baran;
    • Limongelli, Ivan;
    • Vetro, Annalisa;
    • Iascone, Maria;
    • Pezzoli, Laura;
    • Bellazzi, Riccardo;
    • Perotti, Gianfranco;
    • De Giorgis, Valentina;
    • Lunghi, Simona;
    • Coppola, Giangennaro;
    • Orcesi, Simona;
    • Merli, Pietro;
    • Savasta, Salvatore;
    • Veggiotti, Pierangelo;
    • Zuffardi, Orsetta
    Publication type:
    Article
    2
    3
    4
    5

    Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 317, doi. 10.1038/ejhg.2014.115
    By:
    • Vissers, Lisenka ELM;
    • Bonetti, Monica;
    • Paardekooper Overman, Jeroen;
    • Nillesen, Willy M;
    • Frints, Suzanna G M;
    • de Ligt, Joep;
    • Zampino, Giuseppe;
    • Justino, Ana;
    • Machado, José C;
    • Schepens, Marga;
    • Brunner, Han G;
    • Veltman, Joris A;
    • Scheffer, Hans;
    • Gros, Piet;
    • Costa, José L;
    • Tartaglia, Marco;
    • van der Burgt, Ineke;
    • Yntema, Helger G;
    • den Hertog, Jeroen
    Publication type:
    Article
    6

    Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 405, doi. 10.1038/ejhg.2014.113
    By:
    • Wessels, Margreet M S;
    • Vriezinga, Sabine L;
    • Koletzko, Sybille;
    • Werkstetter, Katharina;
    • Castillejo-De Villasante, Gemma;
    • Shamir, Raanan;
    • Hartman, Corina;
    • Putter, Hein;
    • van der Pal, Sylvia M;
    • Wijmenga, Cisca;
    • Bravi, Enzo;
    • Mearin, M Luisa
    Publication type:
    Article
    7
    8
    9
    10
    11
    12
    13
    14

    Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
    By:
    • Verloes, Alain;
    • Di Donato, Nataliya;
    • Masliah-Planchon, Julien;
    • Jongmans, Marjolijn;
    • Abdul-Raman, Omar A;
    • Albrecht, Beate;
    • Allanson, Judith;
    • Brunner, Han;
    • Bertola, Debora;
    • Chassaing, Nicolas;
    • David, Albert;
    • Devriendt, Koen;
    • Eftekhari, Pirayeh;
    • Drouin-Garraud, Valérie;
    • Faravelli, Francesca;
    • Faivre, Laurence;
    • Giuliano, Fabienne;
    • Guion Almeida, Leina;
    • Juncos, Jorge;
    • Kempers, Marlies
    Publication type:
    Article
    15

    To disclose, or not to disclose? Context matters.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 279, doi. 10.1038/ejhg.2014.108
    By:
    • Rahimzadeh, Vasiliki;
    • Avard, Denise;
    • Sénécal, Karine;
    • Knoppers, Bartha Maria;
    • Sinnett, Daniel
    Publication type:
    Article
    16

    A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 374, doi. 10.1038/ejhg.2014.110
    By:
    • Hirokawa, Megumi;
    • Morita, Hiroyuki;
    • Tajima, Tomoyuki;
    • Takahashi, Atsushi;
    • Ashikawa, Kyota;
    • Miya, Fuyuki;
    • Shigemizu, Daichi;
    • Ozaki, Kouichi;
    • Sakata, Yasuhiko;
    • Nakatani, Daisaku;
    • Suna, Shinichiro;
    • Imai, Yasushi;
    • Tanaka, Toshihiro;
    • Tsunoda, Tatsuhiko;
    • Matsuda, Koichi;
    • Kadowaki, Takashi;
    • Nakamura, Yusuke;
    • Nagai, Ryozo;
    • Komuro, Issei;
    • Kubo, Michiaki
    Publication type:
    Article
    17
    18
    19
    20

    Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 381, doi. 10.1038/ejhg.2014.101
    By:
    • Versmissen, Jorie;
    • Oosterveer, Daniëlla M;
    • Yazdanpanah, Mojgan;
    • Dehghan, Abbas;
    • Hólm, Hilma;
    • Erdman, Jeanette;
    • Aulchenko, Yurii S;
    • Thorleifsson, Gudmar;
    • Schunkert, Heribert;
    • Huijgen, Roeland;
    • Vongpromek, Ranitha;
    • Uitterlinden, André G;
    • Defesche, Joep C;
    • van Duijn, Cornelia M;
    • Mulder, Monique;
    • Dadd, Tony;
    • Karlsson, Hróbjartur D;
    • Ordovas, Jose;
    • Kindt, Iris;
    • Jarman, Amelia
    Publication type:
    Article
    21
    22
    23
    24