Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 3

Results: 16
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    Cover Image, Volume 39, Issue 3.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. i, doi. 10.1002/humu.23405
    By:
    • Abbott, Jamie A.;
    • Meyer‐Schuman, Rebecca;
    • Lupo, Vincenzo;
    • Feely, Shawna;
    • Mademan, Inès;
    • Oprescu, Stephanie N.;
    • Griffin, Laurie B.;
    • Alberti, M. Antonia;
    • Casasnovas, Carlos;
    • Aharoni, Sharon;
    • Basel‐Vanagaite, Lina;
    • Züchner, Stephan;
    • De Jonghe, Peter;
    • Baets, Jonathan;
    • Shy, Michael E.;
    • Espinós, Carmen;
    • Demeler, Borries;
    • Antonellis, Anthony;
    • Francklyn, Christopher
    Publication type:
    Article
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    4

    <italic>MYO5B</italic>, <italic>STX3</italic>, and <italic>STXBP2</italic> mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 333, doi. 10.1002/humu.23386
    By:
    • Dhekne, Herschel S.;
    • Pylypenko, Olena;
    • Overeem, Arend W.;
    • Ferreira, Rosaria J.;
    • van der Velde, K. Joeri;
    • Rings, Edmond H. H. M.;
    • Posovszky, Carsten;
    • Swertz, Morris A.;
    • Houdusse, Anne;
    • van IJzendoorn, Sven C. D.
    Publication type:
    Article
    5

    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385
    By:
    • Sandaradura, Sarah A.;
    • Bournazos, Adam;
    • Mallawaarachchi, Amali;
    • Cummings, Beryl B.;
    • Waddell, Leigh B.;
    • Jones, Kristi J.;
    • Troedson, Christopher;
    • Sudarsanam, Annapurna;
    • Nash, Benjamin M.;
    • Peters, Gregory B.;
    • Algar, Elizabeth M.;
    • MacArthur, Daniel G.;
    • North, Kathryn N.;
    • Brammah, Susan;
    • Charlton, Amanda;
    • Laing, Nigel G.;
    • Wilson, Meredith J.;
    • Davis, Mark R.;
    • Cooper, Sandra T.
    Publication type:
    Article
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    An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 394, doi. 10.1002/humu.23375
    By:
    • Ellison, Gillian;
    • Ahdesmäki, Miika;
    • Luke, Sally;
    • Waring, Paul M.;
    • Wallace, Andrew;
    • Wright, Ronnie;
    • Röthlisberger, Benno;
    • Ludin, Katja;
    • Merkelbach‐Bruse, Sabine;
    • Heydt, Carina;
    • Ligtenberg, Marjolijn J. L.;
    • Mensenkamp, Arjen R.;
    • de Castro, David Gonzalez;
    • Jones, Thomas;
    • Vivancos, Ana;
    • Kondrashova, Olga;
    • Pauwels, Patrick;
    • Weyn, Christine;
    • Hahnen, Eric;
    • Hauke, Jan
    Publication type:
    Article
    11
    12

    Whole exome sequencing identifies a germline <italic>MET</italic> mutation in two siblings with hereditary wild‐type <italic>RET</italic> medullary thyroid cancer.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 371, doi. 10.1002/humu.23378
    By:
    • Sponziello, Marialuisa;
    • Benvenuti, Silvia;
    • Gentile, Alessandra;
    • Pecce, Valeria;
    • Rosignolo, Francesca;
    • Virzì, Anna Rita;
    • Milan, Melissa;
    • Comoglio, Paolo M.;
    • Londin, Eric;
    • Fortina, Paolo;
    • Barnabei, Agnese;
    • Appetecchia, Marialuisa;
    • Marandino, Ferdinando;
    • Russo, Diego;
    • Filetti, Sebastiano;
    • Durante, Cosimo;
    • Verrienti, Antonella
    Publication type:
    Article
    13
    14

    Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
    By:
    • Létard, Pascaline;
    • Drunat, Séverine;
    • Vial, Yoann;
    • Duerinckx, Sarah;
    • Ernault, Anais;
    • Amram, Daniel;
    • Arpin, Stéphanie;
    • Bertoli, Marta;
    • Busa, Tiffany;
    • Ceulemans, Berten;
    • Desir, Julie;
    • Doco‐Fenzy, Martine;
    • Elalaoui, Siham Chafai;
    • Devriendt, Koenraad;
    • Faivre, Laurence;
    • Francannet, Christine;
    • Geneviève, David;
    • Gérard, Marion;
    • Gitiaux, Cyril;
    • Julia, Sophie
    Publication type:
    Article
    15

    Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 415, doi. 10.1002/humu.23380
    By:
    • Abbott, Jamie A.;
    • Meyer‐Schuman, Rebecca;
    • Lupo, Vincenzo;
    • Feely, Shawna;
    • Mademan, Inès;
    • Oprescu, Stephanie N.;
    • Griffin, Laurie B.;
    • Alberti, M. Antonia;
    • Casasnovas, Carlos;
    • Aharoni, Sharon;
    • Basel‐Vanagaite, Lina;
    • Züchner, Stephan;
    • De Jonghe, Peter;
    • Baets, Jonathan;
    • Shy, Michael E.;
    • Espinós, Carmen;
    • Demeler, Borries;
    • Antonellis, Anthony;
    • Francklyn, Christopher
    Publication type:
    Article
    16

    Issue Information.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 315, doi. 10.1002/humu.23324
    Publication type:
    Article