Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 10

Results: 17
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    GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 1009, doi. 10.1002/humu.22837
    By:
    • Au, P. Y. Billie;
    • You, Jing;
    • Caluseriu, Oana;
    • Schwartzentruber, Jeremy;
    • Majewski, Jacek;
    • Bernier, Francois P.;
    • Ferguson, Marcia;
    • Valle, David;
    • Parboosingh, Jillian S.;
    • Sobreira, Nara;
    • Innes, A. Micheil;
    • Kline, Antonie D.
    Publication type:
    Article
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    Contents.

    Published in:
    2015
    Publication type:
    Other
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    7

    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 931, doi. 10.1002/humu.22851
    By:
    • Buske, Orion J.;
    • Girdea, Marta;
    • Dumitriu, Sergiu;
    • Gallinger, Bailey;
    • Hartley, Taila;
    • Trang, Heather;
    • Misyura, Andriy;
    • Friedman, Tal;
    • Beaulieu, Chandree;
    • Bone, William P.;
    • Links, Amanda E.;
    • Washington, Nicole L.;
    • Haendel, Melissa A.;
    • Robinson, Peter N.;
    • Boerkoel, Cornelius F.;
    • Adams, David;
    • Gahl, William A.;
    • Boycott, Kym M.;
    • Brudno, Michael
    Publication type:
    Article
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    The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
    By:
    • Philippakis, Anthony A.;
    • Azzariti, Danielle R.;
    • Beltran, Sergi;
    • Brookes, Anthony J.;
    • Brownstein, Catherine A.;
    • Brudno, Michael;
    • Brunner, Han G.;
    • Buske, Orion J.;
    • Carey, Knox;
    • Doll, Cassie;
    • Dumitriu, Sergiu;
    • Dyke, Stephanie O.M.;
    • den Dunnen, Johan T.;
    • Firth, Helen V.;
    • Gibbs, Richard A.;
    • Girdea, Marta;
    • Gonzalez, Michael;
    • Haendel, Melissa A.;
    • Hamosh, Ada;
    • Holm, Ingrid A.
    Publication type:
    Article
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    Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 1015, doi. 10.1002/humu.22843
    By:
    • Loucks, Catrina M.;
    • Parboosingh, Jillian S.;
    • Shaheen, Ranad;
    • Bernier, Francois P.;
    • McLeod, D. Ross;
    • Seidahmed, Mohammed Z.;
    • Puffenberger, Erik G.;
    • Ober, Carole;
    • Hegele, Robert A.;
    • Boycott, Kym M.;
    • Alkuraya, Fowzan S.;
    • Innes, A. Micheil
    Publication type:
    Article
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