Works matching IS 15537390 AND DT 2020 AND VI 16 AND IP 9


Results: 35
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    A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred Foals.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009028
    By:
    • Rivas, Victor N.;
    • Magdesian, K. Gary;
    • Fagan, Sophia;
    • Slovis, Nathan M.;
    • Luethy, Daniela;
    • Javsicas, Laura H.;
    • Caserto, Brian G.;
    • Miller, Andrew D.;
    • Dahlgren, Anna R.;
    • Peterson, Janel;
    • Hales, Erin N.;
    • Peng, Sichong;
    • Watson, Katherine D.;
    • Khokha, Mustafa K.;
    • Finno, Carrie J.
    Publication type:
    Article
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    Aldh inhibitor restores auditory function in a mouse model of human deafness.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009040
    By:
    • Zhu, Guang-Jie;
    • Gong, Sihao;
    • Ma, Deng-Bin;
    • Tao, Tao;
    • He, Wei-Qi;
    • Zhang, Linqing;
    • Wang, Fang;
    • Qian, Xiao-Yun;
    • Zhou, Han;
    • Fan, Chi;
    • Wang, Pei;
    • Chen, Xin;
    • Zhao, Wei;
    • Sun, Jie;
    • Chen, Huaqun;
    • Wang, Ye;
    • Gao, Xiang;
    • Zuo, Jian;
    • Zhu, Min-Sheng;
    • Gao, Xia
    Publication type:
    Article
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    Candidate variants in TUB are associated with familial tremor.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009010
    By:
    • Sailani, M. Reza;
    • Jahanbani, Fereshteh;
    • Abbott, Charles W.;
    • Lee, Hayan;
    • Zia, Amin;
    • Rego, Shannon;
    • Winkelmann, Juliane;
    • Hopfner, Franziska;
    • Khan, Tahir N.;
    • Katsanis, Nicholas;
    • Müller, Stefanie H.;
    • Berg, Daniela;
    • Lyman, Katherine M.;
    • Mychajliw, Christian;
    • Deuschl, Günther;
    • Bernstein, Jonathan A.;
    • Kuhlenbäumer, Gregor;
    • Snyder, Michael P.
    Publication type:
    Article
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    The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009018
    By:
    • Miao, Zong;
    • Alvarez, Marcus;
    • Ko, Arthur;
    • Bhagat, Yash;
    • Rahmani, Elior;
    • Jew, Brandon;
    • Heinonen, Sini;
    • Muñoz-Hernandez, Linda Liliana;
    • Herrera-Hernandez, Miguel;
    • Aguilar-Salinas, Carlos;
    • Tusie-Luna, Teresa;
    • Mohlke, Karen L.;
    • Laakso, Markku;
    • Pietiläinen, Kirsi H.;
    • Halperin, Eran;
    • Pajukanta, Päivi
    Publication type:
    Article
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    A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009000
    By:
    • Levitas, Aviva;
    • Muhammad, Emad;
    • Zhang, Yuan;
    • Perea Gil, Isaac;
    • Serrano, Ricardo;
    • Diaz, Nashielli;
    • Arafat, Maram;
    • Gavidia, Alexandra A.;
    • Kapiloff, Michael S.;
    • Mercola, Mark;
    • Etzion, Yoram;
    • Parvari, Ruti;
    • Karakikes, Ioannis
    Publication type:
    Article
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    Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009019
    By:
    • Spracklen, Cassandra N.;
    • Iyengar, Apoorva K.;
    • Vadlamudi, Swarooparani;
    • Raulerson, Chelsea K.;
    • Jackson, Anne U.;
    • Brotman, Sarah M.;
    • Wu, Ying;
    • Cannon, Maren E.;
    • Davis, James P.;
    • Crain, Aaron T.;
    • Currin, Kevin W.;
    • Perrin, Hannah J.;
    • Narisu, Narisu;
    • Stringham, Heather M.;
    • Fuchsberger, Christian;
    • Locke, Adam E.;
    • Welch, Ryan P.;
    • Kuusisto, Johanna K.;
    • Pajukanta, Päivi;
    • Scott, Laura J.
    Publication type:
    Article
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    Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1008916
    By:
    • Liang, Zhengzheng S.;
    • Cimino, Irene;
    • Yalcin, Binnaz;
    • Raghupathy, Narayanan;
    • Vancollie, Valerie E.;
    • Ibarra-Soria, Ximena;
    • Firth, Helen V.;
    • Rimmington, Debra;
    • Farooqi, I. Sadaf;
    • Lelliott, Christopher J.;
    • Munger, Steven C.;
    • O'Rahilly, Stephen;
    • Ferguson-Smith, Anne C.;
    • Coll, Anthony P.;
    • Logan, Darren W.
    Publication type:
    Article
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    A mega-analysis of expression quantitative trait loci in retinal tissue.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1008934
    By:
    • Strunz, Tobias;
    • Kiel, Christina;
    • Grassmann, Felix;
    • Ratnapriya, Rinki;
    • Kwicklis, Madeline;
    • Karlstetter, Marcus;
    • Fauser, Sascha;
    • Arend, Nicole;
    • Swaroop, Anand;
    • Langmann, Thomas;
    • Wolf, Armin;
    • Weber, Bernhard H. F.
    Publication type:
    Article