Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 4

Results: 9
    1

    Confounding effects of microbiome on the susceptibility of TNFSF15 to Crohn's disease in the Ryukyu Islands.

    Published in:
    Human Genetics, 2017, v. 136, n. 4, p. 387, doi. 10.1007/s00439-017-1764-0
    By:
    • Nakagome, Shigeki;
    • Said, Heba;
    • Morita, Hidetoshi;
    • Hattori, Masahira;
    • Mano, Shuhei;
    • Chinen, Hiroshi;
    • Iraha, Atsushi;
    • Hokama, Akira;
    • Kinjo, Fukunori;
    • Takeyama, Yasuaki;
    • Sakisaka, Shotaro;
    • Matsui, Toshiyuki;
    • Kidd, Judith;
    • Kidd, Kenneth;
    • Suda, Wataru;
    • Hanihara, Tsunehiko;
    • Oota, Hiroki;
    • Kimura, Ryosuke;
    • Ishida, Hajime;
    • Fujita, Jiro
    Publication type:
    Article
    2

    Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

    Published in:
    Human Genetics, 2017, v. 136, n. 4, p. 399, doi. 10.1007/s00439-017-1765-z
    By:
    • Vilboux, Thierry;
    • Gahl, William;
    • Malicdan, May;
    • Gunay-Aygun, Meral;
    • Stephen, Joshi;
    • Kuptanon, Chulaluck;
    • Sinclair, Courtney;
    • Yildirimli, Deniz;
    • Maynard, Dawn;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Huizing, Marjan;
    • Mian, Luhe;
    • Vemulapalli, Meghana;
    • Mullikin, James
    Publication type:
    Article
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    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

    Published in:
    Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
    By:
    • Depienne, Christel;
    • Nava, Caroline;
    • Keren, Boris;
    • Heide, Solveig;
    • Passemard, Sandrine;
    • Moutard, Marie-Laure;
    • Amor, David;
    • Billette de Villemeur, Thierry;
    • Doummar, Diane;
    • Alby, Caroline;
    • Cormier-Daire, Valérie;
    • Saint-Martin, Anne;
    • Hirsch, Edouard;
    • Faivre, Laurence;
    • Burglen, Lydie;
    • Odent, Sylvie;
    • Delrue, Marie-Ange;
    • Caignec, Cédric;
    • Isidor, Bertrand;
    • Renaldo, Florence
    Publication type:
    Article
    9

    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

    Published in:
    Human Genetics, 2017, v. 136, n. 4, p. 377, doi. 10.1007/s00439-017-1763-1
    By:
    • Zhang, Jing;
    • Gambin, Tomasz;
    • Yuan, Bo;
    • Roeder, Elizabeth;
    • Bonneau, Dominique;
    • Denommé-Pichon, Anne-Sophie;
    • Zhu, Wenmiao;
    • He, Weimin;
    • Vetrini, Francesco;
    • Ward, Patricia;
    • Cheung, Sau;
    • Bi, Weimin;
    • Eng, Christine;
    • Lupski, James;
    • Yang, Yaping;
    • Patel, Ankita;
    • Lalani, Seema;
    • Xia, Fan;
    • Stankiewicz, Paweł;
    • Szafranski, Przemyslaw
    Publication type:
    Article