Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 11

Results: 10
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    Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.

    Published in:
    Human Genetics, 2020, v. 139, n. 11, p. 1443, doi. 10.1007/s00439-020-02188-6
    By:
    • Ganapathi, Mythily;
    • Argyriou, Loukas;
    • Martínez-Azorín, Francisco;
    • Morlot, Susanne;
    • Yigit, Gökhan;
    • Lee, Teresa M.;
    • Auber, Bernd;
    • von Gise, Alexander;
    • Petrey, Donald S.;
    • Thiele, Holger;
    • Cyganek, Lukas;
    • Sabater-Molina, María;
    • Ahimaz, Priyanka;
    • Cabezas-Herrera, Juan;
    • Sorlí-García, Moisés;
    • Zibat, Arne;
    • Siegelin, Markus D.;
    • Burfeind, Peter;
    • Buchovecky, Christie M.;
    • Hasenfuss, Gerd
    Publication type:
    Article
    5

    Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

    Published in:
    Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
    By:
    • Palombo, Flavia;
    • Graziano, Claudio;
    • Al Wardy, Nadia;
    • Nouri, Nayereh;
    • Marconi, Caterina;
    • Magini, Pamela;
    • Severi, Giulia;
    • La Morgia, Chiara;
    • Cantalupo, Gaetano;
    • Cordelli, Duccio Maria;
    • Gangarossa, Simone;
    • Al Kindi, Mohammed Nasser;
    • Al Khabouri, Mazin;
    • Salehi, Mansoor;
    • Giorgio, Elisa;
    • Brusco, Alfredo;
    • Pisani, Francesco;
    • Romeo, Giovanni;
    • Carelli, Valerio;
    • Pippucci, Tommaso
    Publication type:
    Article
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    The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.

    Published in:
    Human Genetics, 2020, v. 139, n. 11, p. 1417, doi. 10.1007/s00439-020-02186-8
    By:
    • Kato, Takema;
    • Inagaki, Hidehito;
    • Miyai, Syunsuke;
    • Suzuki, Fumihiko;
    • Naru, Yuki;
    • Shinkai, Yasuko;
    • Kato, Asuka;
    • Kanyama, Kazuo;
    • Mizuno, Seiji;
    • Muramatsu, Yukako;
    • Yamamoto, Toshiyuki;
    • Shinya, Mitsuhisa;
    • Tazaki, Yukiko;
    • Hiwatashi, Sayuri;
    • Ikeda, Toshiro;
    • Ozaki, Mamoru;
    • Kurahashi, Hiroki
    Publication type:
    Article
    7

    Low-pass genome sequencing: a validated method in clinical cytogenetics.

    Published in:
    Human Genetics, 2020, v. 139, n. 11, p. 1403, doi. 10.1007/s00439-020-02185-9
    By:
    • Chau, Matthew Hoi Kin;
    • Wang, Huilin;
    • Lai, Yunli;
    • Zhang, Yanyan;
    • Xu, Fuben;
    • Tang, Yanqing;
    • Wang, Yanfang;
    • Chen, Zihan;
    • Leung, Tak Yeung;
    • Chung, Jacqueline Pui Wah;
    • Kwok, Yvonne K.;
    • Chong, Shuk Ching;
    • Choy, Kwong Wai;
    • Zhu, Yuanfang;
    • Xiong, Likuan;
    • Wei, Weihong;
    • Dong, Zirui
    Publication type:
    Article
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    Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

    Published in:
    Human Genetics, 2020, v. 139, n. 11, p. 1381, doi. 10.1007/s00439-020-02178-8
    By:
    • Tran Mau-Them, Frederic;
    • Moutton, Sebastien;
    • Racine, Caroline;
    • Vitobello, Antonio;
    • Bruel, Ange-Line;
    • Nambot, Sophie;
    • Kushner, Steven A.;
    • de Vrij, Femke M. S.;
    • Lehalle, Daphné;
    • Jean-Marçais, Nolwenn;
    • Lecoquierre, François;
    • Delanne, Julian;
    • Thevenon, Julien;
    • Poe, Charlotte;
    • Jouan, Thibaut;
    • Chevarin, Martin;
    • Geneviève, David;
    • Willems, Marjolaine;
    • Coubes, Christine;
    • Houcinat, Nada
    Publication type:
    Article
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