Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 12

Results: 19
    1
    2
    3
    4

    Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1240, doi. 10.1038/ejhg.2012.95
    By:
    • Schaaf, Christian P;
    • Boone, Philip M;
    • Sampath, Srirangan;
    • Williams, Charles;
    • Bader, Patricia I;
    • Mueller, Jennifer M;
    • Shchelochkov, Oleg A;
    • Brown, Chester W;
    • Crawford, Heather P;
    • Phalen, James A;
    • Tartaglia, Nicole R;
    • Evans, Patricia;
    • Campbell, William M;
    • Chun-Hui Tsai, Anne;
    • Parsley, Lea;
    • Grayson, Stephanie W;
    • Scheuerle, Angela;
    • Luzzi, Carol D;
    • Thomas, Sandra K;
    • Eng, Patricia A
    Publication type:
    Article
    5
    6
    7
    8

    Copy number variation in patients with cervical artery dissection.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1295, doi. 10.1038/ejhg.2012.82
    By:
    • Grond-Ginsbach, Caspar;
    • Chen, Bowang;
    • Pjontek, Rastislav;
    • Wiest, Tina;
    • Jiang, Yanxiang;
    • Burwinkel, Barbara;
    • Tchatchou, Sandrine;
    • Krawczak, Michael;
    • Schreiber, Stefan;
    • Brandt, Tobias;
    • Kloss, Manja;
    • Arnold, Marie-Luise;
    • Hemminki, Kari;
    • Lichy, Christoph;
    • Lyrer, Philippe A;
    • Hausser, Ingrid;
    • Engelter, Stefan T
    Publication type:
    Article
    9
    10
    11
    12

    PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1224, doi. 10.1038/ejhg.2012.80
    By:
    • Reis, Linda M;
    • Tyler, Rebecca C;
    • Volkmann Kloss, Bethany A;
    • Schilter, Kala F;
    • Levin, Alex V;
    • Lowry, R Brian;
    • Zwijnenburg, Petra J G;
    • Stroh, Eliza;
    • Broeckel, Ulrich;
    • Murray, Jeffrey C;
    • Semina, Elena V
    Publication type:
    Article
    13

    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1216, doi. 10.1038/ejhg.2012.127
    By:
    • Allou, Lila;
    • Lambert, Laetitia;
    • Amsallem, Daniel;
    • Bieth, Eric;
    • Edery, Patrick;
    • Destrée, Anne;
    • Rivier, François;
    • Amor, David;
    • Thompson, Elizabeth;
    • Nicholl, Julian;
    • Harbord, Michael;
    • Nemos, Christophe;
    • Saunier, Aline;
    • Moustaïne, Aissa;
    • Vigouroux, Adeline;
    • Jonveaux, Philippe;
    • Philippe, Christophe
    Publication type:
    Article
    14
    15

    Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
    By:
    • Bello, Luca;
    • Melacini, Paola;
    • Pezzani, Raffaele;
    • D'Amico, Adele;
    • Piva, Luisa;
    • Leonardi, Emanuela;
    • Torella, Annalaura;
    • Soraru, Gianni;
    • Palmieri, Arianna;
    • Smaniotto, Gessica;
    • Gavassini, Bruno F;
    • Vianello, Andrea;
    • Nigro, Vincenzo;
    • Bertini, Enrico;
    • Angelini, Corrado;
    • Tosatto, Silvio C E;
    • Pegoraro, Elena
    Publication type:
    Article
    16

    MLH1 methylation screening is effective in identifying epimutation carriers.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1256, doi. 10.1038/ejhg.2012.136
    By:
    • Pineda, Marta;
    • Mur, Pilar;
    • Iniesta, María Dolores;
    • Borràs, Ester;
    • Campos, Olga;
    • Vargas, Gardenia;
    • Iglesias, Sílvia;
    • Fernández, Anna;
    • Gruber, Stephen B;
    • Lázaro, Conxi;
    • Brunet, Joan;
    • Navarro, Matilde;
    • Blanco, Ignacio;
    • Capellá, Gabriel
    Publication type:
    Article
    17
    18
    19

    Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1275, doi. 10.1038/ejhg.2012.86
    By:
    • Rootsi, Siiri;
    • Myres, Natalie M;
    • Lin, Alice A;
    • Järve, Mari;
    • King, Roy J;
    • Kutuev, Ildus;
    • Cabrera, Vicente M;
    • Khusnutdinova, Elza K;
    • Varendi, Kärt;
    • Sahakyan, Hovhannes;
    • Behar, Doron M;
    • Khusainova, Rita;
    • Balanovsky, Oleg;
    • Balanovska, Elena;
    • Rudan, Pavao;
    • Yepiskoposyan, Levon;
    • Bahmanimehr, Ardeshir;
    • Farjadian, Shirin;
    • Kushniarevich, Alena;
    • Herrera, Rene J
    Publication type:
    Article