Works matching IS 15537390 AND DT 2019 AND VI 15 AND IP 3

Results: 45
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    Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008075
    By:
    • Maggiolini, Flavia A. M.;
    • Cantsilieris, Stuart;
    • D’Addabbo, Pietro;
    • Manganelli, Michele;
    • Coe, Bradley P.;
    • Dumont, Beth L.;
    • Sanders, Ashley D.;
    • Pang, Andy Wing Chun;
    • Vollger, Mitchell R.;
    • Palumbo, Orazio;
    • Palumbo, Pietro;
    • Accadia, Maria;
    • Carella, Massimo;
    • Eichler, Evan E.;
    • Antonacci, Francesca
    Publication type:
    Article
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    A missense variant in FTCD affects arsenic metabolism and toxicity phenotypes in Bangladesh.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007984
    By:
    • Pierce, Brandon L.;
    • Tong, Lin;
    • Dean, Samantha;
    • Argos, Maria;
    • Jasmine, Farzana;
    • Rakibuz-Zaman, Muhammad;
    • Sarwar, Golam;
    • Islam, Md. Tariqul;
    • Shahriar, Hasan;
    • Islam, Tariqul;
    • Rahman, Mahfuzar;
    • Yunus, Md.;
    • Lynch, Vincent J.;
    • Oglesbee, Devin;
    • Graziano, Joseph H.;
    • Kibriya, Muhammad G.;
    • Gamble, Mary V.;
    • Ahsan, Habibul
    Publication type:
    Article
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    A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007967
    By:
    • Biasoli, Deborah;
    • Compston-Garnett, Lara;
    • Ricketts, Sally L.;
    • Birand, Zeynep;
    • Courtay-Cahen, Celine;
    • Fineberg, Elena;
    • Arendt, Maja;
    • Boerkamp, Kim;
    • Melin, Malin;
    • Koltookian, Michele;
    • Murphy, Sue;
    • Rutteman, Gerard;
    • Lindblad-Toh, Kerstin;
    • Starkey, Mike
    Publication type:
    Article
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    The Plight of Muntaser Ibrahim.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008100
    By:
    • Sirugo, Giorgio;
    • Williams, Scott M.;
    • Tishkoff, Sarah A.;
    • Cordell, Heather J.;
    • Marchini, Jonathan;
    • Barsh, Gregory S.;
    • Copenhaver, Gregory P.
    Publication type:
    Article
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    Hypomorphic mutation of the mouse Huntington's disease gene orthologue.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007765
    By:
    • Murthy, Vidya;
    • Tebaldi, Toma;
    • Yoshida, Toshimi;
    • Erdin, Serkan;
    • Calzonetti, Teresa;
    • Vijayvargia, Ravi;
    • Tripathi, Takshashila;
    • Kerschbamer, Emanuela;
    • Seong, Ihn Sik;
    • Quattrone, Alessandro;
    • Talkowski, Michael E.;
    • Gusella, James F.;
    • Georgopoulos, Katia;
    • MacDonald, Marcy E.;
    • Biagioli, Marta
    Publication type:
    Article
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    An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007873
    By:
    • Mäkeläinen, Suvi;
    • Gòdia, Marta;
    • Hellsand, Minas;
    • Viluma, Agnese;
    • Hahn, Daniela;
    • Makdoumi, Karim;
    • Zeiss, Caroline J.;
    • Mellersh, Cathryn;
    • Ricketts, Sally L.;
    • Narfström, Kristina;
    • Hallböök, Finn;
    • Ekesten, Björn;
    • Andersson, Göran;
    • Bergström, Tomas F.
    Publication type:
    Article
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    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007605
    By:
    • Handley, Mark T.;
    • Reddy, Kaalak;
    • Wills, Jimi;
    • Rosser, Elisabeth;
    • Kamath, Archith;
    • Halachev, Mihail;
    • Falkous, Gavin;
    • Williams, Denise;
    • Cox, Phillip;
    • Meynert, Alison;
    • Raymond, Eleanor S.;
    • Morrison, Harris;
    • Brown, Stephen;
    • Allan, Emma;
    • Aligianis, Irene;
    • Jackson, Andrew P.;
    • Ramsahoye, Bernard H.;
    • von Kriegsheim, Alex;
    • Taylor, Robert W.;
    • Finch, Andrew J.
    Publication type:
    Article
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    Genetic effects on the commensal microbiota in inflammatory bowel disease patients.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008018
    By:
    • Aschard, Hugues;
    • Laville, Vincent;
    • Tchetgen, Eric Tchetgen;
    • Knights, Dan;
    • Imhann, Floris;
    • Seksik, Philippe;
    • Zaitlen, Noah;
    • Silverberg, Mark S.;
    • Cosnes, Jacques;
    • Weersma, Rinse K.;
    • Xavier, Ramnik;
    • Beaugerie, Laurent;
    • Skurnik, David;
    • Sokol, Harry
    Publication type:
    Article
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    Genetic signatures of gene flow and malaria-driven natural selection in sub-Saharan populations of the "endemic Burkitt Lymphoma belt".

    Published in:
    PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008027
    By:
    • Gouveia, Mateus H.;
    • Bergen, Andrew W.;
    • Borda, Victor;
    • Nunes, Kelly;
    • Leal, Thiago P.;
    • Ogwang, Martin D.;
    • Yeboah, Edward D.;
    • Mensah, James E.;
    • Kinyera, Tobias;
    • Otim, Isaac;
    • Nabalende, Hadijah;
    • Legason, Ismail D.;
    • Mpoloka, Sununguko Wata;
    • Mokone, Gaonyadiwe George;
    • Kerchan, Patrick;
    • Bhatia, Kishor;
    • Reynolds, Steven J.;
    • Birtwum, Richard B.;
    • Adjei, Andrew A.;
    • Tettey, Yao
    Publication type:
    Article
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