Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 2

Results: 14
    1

    Issue Information.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 123, doi. 10.1002/humu.23079
    Publication type:
    Article
    2
    3

    Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 226, doi. 10.1002/humu.23137
    By:
    • Weren, Robbert D.A.;
    • Mensenkamp, Arjen R.;
    • Simons, Michiel;
    • Eijkelenboom, Astrid;
    • Sie, Aisha S.;
    • Ouchene, Hicham;
    • Asseldonk, Monique;
    • Gomez‐Garcia, Encarna B.;
    • Blok, Marinus J.;
    • Hullu, Joanne A.;
    • Nelen, Marcel R.;
    • Hoischen, Alexander;
    • Bulten, Johan;
    • Tops, Bastiaan B.J.;
    • Hoogerbrugge, Nicoline;
    • Ligtenberg, Marjolijn J.L.
    Publication type:
    Article
    4

    Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 160, doi. 10.1002/humu.23138
    By:
    • Yuste‐Checa, Patricia;
    • Brasil, Sandra;
    • Gámez, Alejandra;
    • Underhaug, Jarl;
    • Desviat, Lourdes R;
    • Ugarte, Magdalena;
    • Pérez‐Cerdá, Celia;
    • Martinez, Aurora;
    • Pérez, Belén
    Publication type:
    Article
    5
    6
    7

    Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 148, doi. 10.1002/humu.23145
    By:
    • Matalonga, Leslie;
    • Bravo, Miren;
    • Serra‐Peinado, Carla;
    • García‐Pelegrí, Elisabeth;
    • Ugarteburu, Olatz;
    • Vidal, Silvia;
    • Llambrich, Maria;
    • Quintana, Ester;
    • Fuster‐Jorge, Pedro;
    • Gonzalez‐Bravo, Maria Nieves;
    • Beltran, Sergi;
    • Dopazo, Joaquin;
    • Garcia‐Garcia, Francisco;
    • Foulquier, François;
    • Matthijs, Gert;
    • Mills, Philippa;
    • Ribes, Antonia;
    • Egea, Gustavo;
    • Briones, Paz;
    • Tort, Frederic
    Publication type:
    Article
    8
    9
    10

    Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 180, doi. 10.1002/humu.23146
    By:
    • Nilsson, Daniel;
    • Pettersson, Maria;
    • Gustavsson, Peter;
    • Förster, Alisa;
    • Hofmeister, Wolfgang;
    • Wincent, Josephine;
    • Zachariadis, Vasilios;
    • Anderlid, Britt‐Marie;
    • Nordgren, Ann;
    • Mäkitie, Outi;
    • Wirta, Valtteri;
    • Käller, Max;
    • Vezzi, Francesco;
    • Lupski, James R;
    • Nordenskjöld, Magnus;
    • Syk Lundberg, Elisabeth;
    • Carvalho, Claudia M. B.;
    • Lindstrand, Anna
    Publication type:
    Article
    11
    12

    Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 216, doi. 10.1002/humu.23149
    By:
    • Parrini, Elena;
    • Marini, Carla;
    • Mei, Davide;
    • Galuppi, Anna;
    • Cellini, Elena;
    • Pucatti, Daniela;
    • Chiti, Laura;
    • Rutigliano, Domenico;
    • Bianchini, Claudia;
    • Virdò, Simona;
    • Vita, Dalila;
    • Bigoni, Stefania;
    • Barba, Carmen;
    • Mari, Francesco;
    • Montomoli, Martino;
    • Pisano, Tiziana;
    • Rosati, Anna;
    • Guerrini, Renzo
    Publication type:
    Article
    13
    14

    Cover Image, Volume 38, Issue 2.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. i, doi. 10.1002/humu.23167
    By:
    • Seifi, Morteza;
    • Footz, Tim;
    • Taylor, Sherry A. M.;
    • Walter, Michael A.
    Publication type:
    Article