Works matching IS 15537390 AND DT 2019 AND VI 15 AND IP 4

Results: 47
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    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088
    By:
    • Tiosano, Dov;
    • Baris, Hagit N.;
    • Chen, Anlu;
    • Hitzert, Marrit M.;
    • Schueler, Markus;
    • Gulluni, Federico;
    • Wiesener, Antje;
    • Bergua, Antonio;
    • Mory, Adi;
    • Copeland, Brett;
    • Gleeson, Joseph G.;
    • Rump, Patrick;
    • van Meer, Hester;
    • Sival, Deborah A.;
    • Haucke, Volker;
    • Kriwinsky, Josh;
    • Knaup, Karl X.;
    • Reis, André;
    • Hauer, Nadine N.;
    • Hirsch, Emilio
    Publication type:
    Article
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    Genetics of adaptation in modern chicken.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1007989
    By:
    • Qanbari, Saber;
    • Rubin, Carl-Johan;
    • Maqbool, Khurram;
    • Weigend, Steffen;
    • Weigend, Annett;
    • Geibel, Johannes;
    • Kerje, Susanne;
    • Wurmser, Christine;
    • Peterson, Andrew Townsend;
    • Jr.Brisbin, I. Lehr;
    • Preisinger, Ruedi;
    • Fries, Ruedi;
    • Simianer, Henner;
    • Andersson, Leif
    Publication type:
    Article
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    Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008092
    By:
    • Molineros, Julio E.;
    • Looger, Loren L.;
    • Kim, Kwangwoo;
    • Okada, Yukinori;
    • Terao, Chikashi;
    • Sun, Celi;
    • Zhou, Xu-jie;
    • Raj, Prithvi;
    • Kochi, Yuta;
    • Suzuki, Akari;
    • Akizuki, Shuji;
    • Nakabo, Shuichiro;
    • Bang, So-Young;
    • Lee, Hye-Soon;
    • Kang, Young Mo;
    • Suh, Chang-Hee;
    • Chung, Won Tae;
    • Park, Yong-Beom;
    • Choe, Jung-Yoon;
    • Shim, Seung-Cheol
    Publication type:
    Article
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    Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1007739
    By:
    • Lee, Jiwon;
    • Gleason, Kevin J.;
    • Gottlieb, Daniel J.;
    • Cade, Brian E.;
    • Purcell, Shaun M.;
    • Wang, Heming;
    • Saxena, Richa;
    • Redline, Susan;
    • Sofer, Tamar;
    • Below, Jennifer E.;
    • Cai, Jianwen;
    • Evans, Daniel S.;
    • Stone, Katie L.;
    • Tranah, Gregory J.;
    • Frazier-Wood, Alexis C.;
    • Gharib, Sina A.;
    • Hillman, David R.;
    • Lederer, David J.;
    • Loredo, Jose S.;
    • Mei, Hao
    Publication type:
    Article
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    An experimental assay of the interactions of amino acids from orthologous sequences shaping a complex fitness landscape.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008079
    By:
    • Pokusaeva, Victoria O.;
    • Usmanova, Dinara R.;
    • Putintseva, Ekaterina V.;
    • Espinar, Lorena;
    • Sarkisyan, Karen S.;
    • Mishin, Alexander S.;
    • Bogatyreva, Natalya S.;
    • Ivankov, Dmitry N.;
    • Akopyan, Arseniy V.;
    • Avvakumov, Sergey Ya.;
    • Povolotskaya, Inna S.;
    • Filion, Guillaume J.;
    • Carey, Lucas B.;
    • Kondrashov, Fyodor A.
    Publication type:
    Article
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    Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008038
    By:
    • Li, Zhixiu;
    • Akar, Servet;
    • Yarkan, Handan;
    • Lee, Sau Kuen;
    • Çetin, Pınar;
    • Can, Gerçek;
    • Kenar, Gökce;
    • Çapa, Fernur;
    • Pamuk, Omer Nuri;
    • Pehlivan, Yavuz;
    • Cremin, Katie;
    • De Guzman, Erika;
    • Harris, Jessica;
    • Wheeler, Lawrie;
    • Jamshidi, Ahmadreza;
    • Vojdanian, Mahdi;
    • Farhadi, Elham;
    • Ahmadzadeh, Nooshin;
    • Yüce, Zeynep;
    • Dalkılıç, Ediz
    Publication type:
    Article
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