Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 4


Results: 16
    1
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    Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 4, p. 675, doi. 10.1093/hmg/ddy387
    By:
    • Wang, Heming;
    • Cade, Brian E;
    • Sofer, Tamar;
    • Sands, Scott A;
    • Chen, Han;
    • Browning, Sharon R;
    • Stilp, Adrienne M;
    • Louie, Tin L;
    • Thornton, Timothy A;
    • Johnson, W Craig;
    • Below, Jennifer E;
    • Conomos, Matthew P;
    • Evans, Daniel S;
    • Gharib, Sina A;
    • Guo, Xiuqing;
    • Wood, Alexis C;
    • Mei, Hao;
    • Yaffe, Kristine;
    • Loredo, Jose S;
    • Ramos, Alberto R
    Publication type:
    Article
    3
    4

    Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 4, p. 698, doi. 10.1093/hmg/ddy362
    By:
    • Hogan, Alison L;
    • Don, Emily K;
    • Rayner, Stephanie L;
    • Lee, Albert;
    • Laird, Angela S;
    • Watchon, Maxinne;
    • Winnick, Claire;
    • Tarr, Ingrid S;
    • Morsch, Marco;
    • Fifita, Jennifer A;
    • Gwee, Serene S L;
    • Formella, Isabel;
    • Hortle, Elinor;
    • Yuan, Kristy C;
    • Molloy, Mark P;
    • Williams, Kelly L;
    • Nicholson, Garth A;
    • Chung, Roger S;
    • Blair, Ian P;
    • Cole, Nicholas J
    Publication type:
    Article
    5

    epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 4, p. 584, doi. 10.1093/hmg/ddy370
    By:
    • Finelli, Mattéa J;
    • Aprile, Davide;
    • Castroflorio, Enrico;
    • Jeans, Alexander;
    • Moschetta, Matteo;
    • Chessum, Lauren;
    • Degiacomi, Matteo T;
    • Grasegger, Julia;
    • Lupien-Meilleur, Alexis;
    • Bassett, Andrew;
    • Rossignol, Elsa;
    • Campeau, Philippe M;
    • Bowl, Michael R;
    • Benfenati, Fabio;
    • Fassio, Anna;
    • Oliver, Peter L
    Publication type:
    Article
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    10

    TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 4, p. 539, doi. 10.1093/hmg/ddy358
    By:
    • Yang, Nan;
    • Wu, Nan;
    • Zhang, Ling;
    • Zhao, Yanxue;
    • Liu, Jiaqi;
    • Liang, Xiangyu;
    • Ren, Xiaojun;
    • Li, Weiyu;
    • Chen, Weisheng;
    • Dong, Shuangshuang;
    • Zhao, Sen;
    • Lin, Jiachen;
    • Xiang, Hang;
    • Xue, Huadan;
    • Chen, Lu;
    • Sun, Hao;
    • Zhang, Jianguo;
    • Shi, Jiangang;
    • Zhang, Shuyang;
    • Lu, Daru
    Publication type:
    Article
    11
    12
    13

    proteasome-resistant fragment of NIK mediates oncogenic NF- κ B signaling in schwannomas.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 4, p. 572, doi. 10.1093/hmg/ddy361
    By:
    • Gehlhausen, Jeffrey R;
    • Hawley, Eric;
    • Wahle, Benjamin Mark;
    • He, Yongzheng;
    • Edwards, Donna;
    • Rhodes, Steven D;
    • Lajiness, Jacquelyn D;
    • Staser, Karl;
    • Chen, Shi;
    • Yang, Xianlin;
    • Yuan, Jin;
    • Li, Xiaohong;
    • Jiang, Li;
    • Smith, Abbi;
    • Bessler, Waylan;
    • Sandusky, George;
    • Stemmer-Rachamimov, Anat;
    • Stuhlmiller, Timothy J;
    • Angus, Steven P;
    • Johnson, Gary L
    Publication type:
    Article
    14
    15

    Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 4, p. 525, doi. 10.1093/hmg/ddy344
    By:
    • Williams, Katie B;
    • Brigatti, Karlla W;
    • Puffenberger, Erik G;
    • Gonzaga-Jauregui, Claudia;
    • Griffin, Laurie B;
    • Martinez, Erick D;
    • Wenger, Olivia K;
    • Yoder, Mark A;
    • Kandula, Vinay V R;
    • Fox, Michael D;
    • Demczko, Matthew M;
    • Poskitt, Laura;
    • Furuya, Katryn N;
    • Reid, Jeffrey G;
    • Overton, John D;
    • Baras, Aris;
    • Miles, Lili;
    • Radhakrishnan, Kadakkal;
    • Carson, Vincent J;
    • Antonellis, Anthony
    Publication type:
    Article
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