Found: 7

Select item for more details and to access through your institution.

  • Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1196, doi. 10.1002/ajmg.a.37551
    By:
    • Tokita, Mari J.;
    • Sybert, Virginia P.
    Publication type:
    Article

  • Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 6, p. 761, doi. 10.1038/ejhg.2014.202
    By:
    • Tokita, Mari J;
    • Chow, Penny M;
    • Mirzaa, Ghayda;
    • Dikow, Nicola;
    • Maas, Bianca;
    • Isidor, Bertrand;
    • Le Caignec, Cédric;
    • Penney, Lynette S;
    • Mazzotta, Giovanni;
    • Bernardini, Laura;
    • Filippi, Tiziana;
    • Battaglia, Agatino;
    • Donti, Emilio;
    • Earl, Dawn;
    • Prontera, Paolo
    Publication type:
    Article

  • Periostin is a novel therapeutic target that predicts and regulates glioma malignancy.

    Published in:
    Neuro-Oncology, 2015, v. 17, n. 3, p. 372, doi. 10.1093/neuonc/nou161
    By:
    • Mikheev, Andrei M.;
    • Mikheeva, Svetlana A.;
    • Trister, Andrew D.;
    • Tokita, Mari J.;
    • Emerson, Samuel N.;
    • Parada, Carolina A.;
    • Born, Donald E.;
    • Carnemolla, Barbara;
    • Frankel, Sam;
    • Deok-Ho Kim;
    • Oxford, Rob G.;
    • Yoshito Kosai;
    • Tozer-Fink, Kathleen R.;
    • Manning, Thomas C.;
    • Silber, John R.;
    • Rostomily, Robert C.
    Publication type:
    Article

  • Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

    Published in:
    JAMA Pediatrics, 2017, v. 171, n. 12, p. 1, doi. 10.1001/jamapediatrics.2017.3438
    By:
    • Linyan Meng;
    • Pammi, Mohan;
    • Saronwala, Anirudh;
    • Magoulas, Pilar;
    • Ghazi, Andrew Ray;
    • Vetrini, Francesco;
    • Jing Zhang;
    • Weimin He;
    • Dharmadhikari, Avinash V.;
    • Chunjing Qu;
    • Ward, Patricia;
    • Braxton, Alicia;
    • Narayanan, Swetha;
    • Xiaoyan Ge;
    • Tokita, Mari J.;
    • Santiago-Sim, Teresa;
    • Hongzheng Dai;
    • Theodore Chiangc;
    • Smith, Hadley;
    • Azamian, Mahshid S.
    Publication type:
    Article

  • Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

    Published in:
    Human Mutation, 2019, v. 40, n. 3, p. 267, doi. 10.1002/humu.23694
    By:
    • Rehman, Atteeq U.;
    • Najafi, Maryam;
    • Kambouris, Marios;
    • Al‐Gazali, Lihadh;
    • Makrythanasis, Periklis;
    • Rad, Abolfazl;
    • Maroofian, Reza;
    • Rajab, Anna;
    • Stark, Zornitza;
    • Hunter, Jill V.;
    • Bakey, Zeineb;
    • Tokita, Mari J.;
    • He, Weimin;
    • Vetrini, Francesco;
    • Petersen, Andrea;
    • Santoni, Federico A.;
    • Hamamy, Hanan;
    • Wu, Kaman;
    • Al‐Jasmi, Fatma;
    • Helmstädter, Martin
    Publication type:
    Article

  • Cover Image, Volume 40, Issue 3.

    Published in:
    Human Mutation, 2019, v. 40, n. 3, p. i, doi. 10.1002/humu.22892
    By:
    • Rehman, Atteeq U.;
    • Najafi, Maryam;
    • Kambouris, Marios;
    • Al‐Gazali, Lihadh;
    • Makrythanasis, Periklis;
    • Rad, Abolfazl;
    • Maroofian, Reza;
    • Rajab, Anna;
    • Stark, Zornitza;
    • Hunter, Jill V.;
    • Bakey, Zeineb;
    • Tokita, Mari J.;
    • He, Weimin;
    • Vetrini, Francesco;
    • Petersen, Andrea;
    • Santoni, Federico A.;
    • Hamamy, Hanan;
    • Wu, Kaman;
    • Al‐Jasmi, Fatma;
    • Helmstädter, Martin
    Publication type:
    Article

  • A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0658-2
    By:
    • Cao, Ye;
    • Tokita, Mari J.;
    • Chen, Edward S.;
    • Ghosh, Rajarshi;
    • Chen, Tiansheng;
    • Feng, Yanming;
    • Gorman, Elizabeth;
    • Gibellini, Federica;
    • Ward, Patricia A.;
    • Braxton, Alicia;
    • Wang, Xia;
    • Meng, Linyan;
    • Xiao, Rui;
    • Bi, Weimin;
    • Xia, Fan;
    • Eng, Christine M.;
    • Yang, Yaping;
    • Gambin, Tomasz;
    • Shaw, Chad;
    • Liu, Pengfei
    Publication type:
    Article