Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 12

Results: 17
    1

    A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
    By:
    • Zanni, Ginevra;
    • Kalscheuer, Vera M.;
    • Friedrich, Andreas;
    • Barresi, Sabina;
    • Alfieri, Paolo;
    • Di Capua, Matteo;
    • Haas, Stefan A.;
    • Piccini, Giorgia;
    • Karl, Thomas;
    • Klauck, Sabine M.;
    • Bellacchio, Emanuele;
    • Emma, Francesco;
    • Cappa, Marco;
    • Bertini, Enrico;
    • Breitenbach‐Koller, Lore
    Publication type:
    Article
    2
    3

    Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1197, doi. 10.1002/humu.22901
    By:
    • Grozeva, Detelina;
    • Carss, Keren;
    • Spasic‐Boskovic, Olivera;
    • Tejada, Maria‐Isabel;
    • Gecz, Jozef;
    • Shaw, Marie;
    • Corbett, Mark;
    • Haan, Eric;
    • Thompson, Elizabeth;
    • Friend, Kathryn;
    • Hussain, Zaamin;
    • Hackett, Anna;
    • Field, Michael;
    • Renieri, Alessandra;
    • Stevenson, Roger;
    • Schwartz, Charles;
    • Floyd, James A.B.;
    • Bentham, Jamie;
    • Cosgrove, Catherine;
    • Keavney, Bernard
    Publication type:
    Article
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    8

    Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
    By:
    • Machado, Rajiv D.;
    • Southgate, Laura;
    • Eichstaedt, Christina A.;
    • Aldred, Micheala A.;
    • Austin, Eric D.;
    • Best, D. Hunter;
    • Chung, Wendy K.;
    • Benjamin, Nicola;
    • Elliott, C. Gregory;
    • Eyries, Mélanie;
    • Fischer, Christine;
    • Gräf, Stefan;
    • Hinderhofer, Katrin;
    • Humbert, Marc;
    • Keiles, Steven B.;
    • Loyd, James E.;
    • Morrell, Nicholas W.;
    • Newman, John H.;
    • Soubrier, Florent;
    • Trembath, Richard C.
    Publication type:
    Article
    9
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    11

    Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1226, doi. 10.1002/humu.22908
    By:
    • Cacace, Rita;
    • den Bossche, Tobi;
    • Engelborghs, Sebastiaan;
    • Geerts, Nathalie;
    • Laureys, Annelies;
    • Dillen, Lubina;
    • Graff, Caroline;
    • Thonberg, Håkan;
    • Chiang, Huei‐Hsin;
    • Pastor, Pau;
    • Ortega‐Cubero, Sara;
    • Pastor, Maria A.;
    • Diehl‐Schmid, Janine;
    • Alexopoulos, Panagiotis;
    • Benussi, Luisa;
    • Ghidoni, Roberta;
    • Binetti, Giuliano;
    • Nacmias, Benedetta;
    • Sorbi, Sandro;
    • Sanchez‐Valle, Raquel
    Publication type:
    Article
    12
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    15

    SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1145, doi. 10.1002/humu.22854
    By:
    • Micha, Dimitra;
    • Guo, Dong‐chuan;
    • Hilhorst‐Hofstee, Yvonne;
    • Kooten, Fop;
    • Atmaja, Dian;
    • Overwater, Eline;
    • Cayami, Ferdy K.;
    • Regalado, Ellen S.;
    • Uffelen, René;
    • Venselaar, Hanka;
    • Faradz, Sultana M.H.;
    • Vriend, Gerrit;
    • Weiss, Marjan M.;
    • Sistermans, Erik A.;
    • Maugeri, Alessandra;
    • Milewicz, Dianna M.;
    • Pals, Gerard;
    • Dijk, Fleur S.
    Publication type:
    Article
    16

    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1150, doi. 10.1002/humu.22859
    By:
    • Hilger, Alina C.;
    • Halbritter, Jan;
    • Pennimpede, Tracie;
    • Ven, Amelie;
    • Sarma, Georgia;
    • Braun, Daniela A.;
    • Porath, Jonathan D.;
    • Kohl, Stefan;
    • Hwang, Daw‐Yang;
    • Dworschak, Gabriel C.;
    • Hermann, Bernhard G.;
    • Pavlova, Anna;
    • El‐Maarri, Osman;
    • Nöthen, Markus M.;
    • Ludwig, Michael;
    • Reutter, Heiko;
    • Hildebrandt, Friedhelm
    Publication type:
    Article
    17