Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 8

Results: 13
    1

    Cover Image, Volume 39, Issue 8.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. i, doi. 10.1002/humu.23587
    By:
    • Diez‐Fernandez, Carmen;
    • Rüfenacht, Véronique;
    • Gemperle, Corinne;
    • Fingerhut, Ralph;
    • Häberle, Johannes
    Publication type:
    Article
    2

    Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1126, doi. 10.1002/humu.23557
    By:
    • Kumar, Raman;
    • Gardner, Alison;
    • Homan, Claire C.;
    • Douglas, Evelyn;
    • Mefford, Heather;
    • Wieczorek, Dagmar;
    • Lüdecke, Hermann‐Josef;
    • Stark, Zornitza;
    • Sadedin, Simon;
    • The Broad CMG;
    • Nowak, Catherine Bearce;
    • Douglas, Jessica;
    • Parsons, Gretchen;
    • Mark, Paul;
    • Loidi, Lourdes;
    • Herman, Gail E.;
    • Mihalic Mosher, Theresa;
    • Gillespie, Meredith K.;
    • Brady, Lauren;
    • Tarnopolsky, Mark
    Publication type:
    Article
    3
    4
    5

    Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1076, doi. 10.1002/humu.23554
    By:
    • Ruaud, Lyse;
    • Rice, Gillian I.;
    • Cabrol, Christelle;
    • Piard, Juliette;
    • Rodero, Mathieu;
    • van Eyk, Lien;
    • Boucher‐Brischoux, Elise;
    • de Noordhout, Alain Maertens;
    • Maré, Ricardo;
    • Scalais, Emmanuel;
    • Pauly, Fernand;
    • Debray, François‐Guillaume;
    • Dobyns, William;
    • Uggenti, Carolina;
    • Park, Ji Woo;
    • Hur, Sun;
    • Livingston, John H.;
    • Crow, Yanick J.;
    • Van Maldergem, Lionel
    Publication type:
    Article
    6
    7

    Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1112, doi. 10.1002/humu.23552
    By:
    • Carrió, Meritxell;
    • Gel, Bernat;
    • Terribas, Ernest;
    • Zucchiatti, Adriana Carolina;
    • Moliné, Teresa;
    • Rosas, Inma;
    • Teulé, Álex;
    • Ramón y Cajal, Santiago;
    • López‐Gutiérrez, Juan Carlos;
    • Blanco, Ignacio;
    • Castellanos, Elisabeth;
    • Lázaro, Conxi;
    • Stemmer‐Rachamimov, Anat;
    • Romagosa, Cleofé;
    • Serra, Eduard
    Publication type:
    Article
    8
    9

    De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1070, doi. 10.1002/humu.23550
    By:
    • Belal, Hazrat;
    • Nakashima, Mitsuko;
    • Matsumoto, Hiroshi;
    • Yokochi, Kenji;
    • Taniguchi‐Ikeda, Mariko;
    • Aoto, Kazushi;
    • Amin, Mohammed Badrul;
    • Maruyama, Azusa;
    • Nagase, Hiroaki;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko;
    • Miyake, Noriko;
    • Iijima, Kazumoto;
    • Nonoyama, Shigeaki;
    • Matsumoto, Naomichi;
    • Saitsu, Hirotomo
    Publication type:
    Article
    10

    Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1092, doi. 10.1002/humu.23549
    By:
    • Evans, Daniel R.;
    • Venkitachalam, Srividya;
    • Revoredo, Leslie;
    • Dohey, Amanda T.;
    • Clarke, Erica;
    • Pennell, Julia J.;
    • Powell, Amy E.;
    • Quinn, Erina;
    • Ravi, Lakshmeswari;
    • Gerken, Thomas A.;
    • Green, Jane S.;
    • Woods, Michael O.;
    • Guda, Kishore
    Publication type:
    Article
    11

    Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1081, doi. 10.1002/humu.23548
    By:
    • García‐Martín, Elena;
    • Sánchez‐Gómez, Francisco J.;
    • Amo, Gemma;
    • García Menaya, Jesús;
    • Cordobés, Concepción;
    • Ayuso, Pedro;
    • Plaza Serón, M. Carmen;
    • Blanca, Miguel;
    • Campo, Paloma;
    • Esguevillas, Gara;
    • Pajares, María A.;
    • G. Agúndez, José A.;
    • Pérez‐Sala, Dolores
    Publication type:
    Article
    12
    13

    Issue Information.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1025, doi. 10.1002/humu.23329
    Publication type:
    Article