Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 5

Results: 15
    1

    Cover Image, Volume 40, Issue 5.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. i, doi. 10.1002/humu.23761
    By:
    • Li, Xiaojin;
    • Zhang, Wei;
    • Zhou, Donghu;
    • Lv, Tingxia;
    • Xu, Anjian;
    • Wang, Hejing;
    • Zhao, Xinyan;
    • Zhang, Bei;
    • Li, Yanmeng;
    • Jia, Siyu;
    • Wang, Yu;
    • Wang, Xiaoming;
    • Wu, Zhen;
    • Duan, Weijia;
    • Wang, Qianyi;
    • Nan, Yuemin;
    • Shang, Jia;
    • Jiang, Wei;
    • Chen, Yongpeng;
    • Zheng, Sujun
    Publication type:
    Article
    2

    RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. 566, doi. 10.1002/humu.23732
    By:
    • Tavera‐Tapia, Alejandra;
    • Hoya, Miguel;
    • Calvete, Oriol;
    • Martin‐Gimeno, Paloma;
    • Fernández, Victoria;
    • Macías, José Antonio;
    • Alonso, Beatriz;
    • Pombo, Luz;
    • Diego, Carles;
    • Alonso, Rosario;
    • Pita, Guillermo;
    • Barroso, Alicia;
    • Urioste, Miguel;
    • Caldés, Trinidad;
    • Newman, Joseph A.;
    • Benítez, Javier;
    • Osorio, Ana
    Publication type:
    Article
    3

    Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
    By:
    • Verrigni, Daniela;
    • Di Nottia, Michela;
    • Ardissone, Anna;
    • Baruffini, Enrico;
    • Nasca, Alessia;
    • Legati, Andrea;
    • Bellacchio, Emanuele;
    • Fagiolari, Gigliola;
    • Martinelli, Diego;
    • Fusco, Lucia;
    • Battaglia, Domenica;
    • Trani, Giulia;
    • Versienti, Gianmarco;
    • Marchet, Silvia;
    • Torraco, Alessandra;
    • Rizza, Teresa;
    • Verardo, Margherita;
    • D'Amico, Adele;
    • Diodato, Daria;
    • Moroni, Isabella
    Publication type:
    Article
    4

    Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. 631, doi. 10.1002/humu.23728
    By:
    • Delimitsou, Angeliki;
    • Fostira, Florentia;
    • Kalfakakou, Despoina;
    • Apostolou, Paraskevi;
    • Konstantopoulou, Irene;
    • Kroupis, Christos;
    • Papavassiliou, Athanasios G.;
    • Kleibl, Zdenek;
    • Stratikos, Efstratios;
    • Voutsinas, Gerassimos E.;
    • Yannoukakos, Drakoulis
    Publication type:
    Article
    5
    6

    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. 649, doi. 10.1002/humu.23721
    By:
    • Gallon, Richard;
    • Mühlegger, Barbara;
    • Wenzel, Sören‐Sebastian;
    • Sheth, Harsh;
    • Hayes, Christine;
    • Aretz, Stefan;
    • Dahan, Karin;
    • Foulkes, William;
    • Kratz, Christian P.;
    • Ripperger, Tim;
    • Azizi, Amedeo A.;
    • Baris Feldman, Hagit;
    • Chong, Anne‐Laure;
    • Demirsoy, Ugur;
    • Florkin, Benoît;
    • Imschweiler, Thomas;
    • Januszkiewicz‐Lewandowska, Danuta;
    • Lobitz, Stephan;
    • Nathrath, Michaela;
    • Pander, Hans‐Jürgen
    Publication type:
    Article
    7
    8

    Cerebral hypomyelination associated with biallelic variants of FIG4.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. 619, doi. 10.1002/humu.23720
    By:
    • Lenk, Guy M.;
    • Berry, Ian R.;
    • Stutterd, Chloe A.;
    • Blyth, Moira;
    • Green, Lydia;
    • Vadlamani, Gayatri;
    • Warren, Daniel;
    • Craven, Ian;
    • Fanjul‐Fernandez, Miriam;
    • Rodriguez‐Casero, Victoria;
    • Lockhart, Paul J.;
    • Vanderver, Adeline;
    • Simons, Cas;
    • Gibb, Susan;
    • Sadedin, Simon;
    • White, Susan M.;
    • Christodoulou, John;
    • Skibina, Olga;
    • Ruddle, Jonathan;
    • Tan, Tiong Y.
    Publication type:
    Article
    9
    10
    11
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    13

    Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. 578, doi. 10.1002/humu.23715
    By:
    • Silva, Raquel S.;
    • Arno, Gavin;
    • Cipriani, Valentina;
    • Pontikos, Nikolas;
    • Defoort‐Dhellemmes, Sabine;
    • Kalhoro, Ambreen;
    • Carss, Keren J.;
    • Raymond, F. Lucy;
    • Dhaenens, Claire Marie;
    • Jensen, Hanne;
    • Rosenberg, Thomas;
    • Heyningen, Veronica;
    • Moore, Anthony T.;
    • Puech, Bernard;
    • Webster, Andrew R.
    Publication type:
    Article
    14
    15

    Issue Information.

    Published in:
    Human Mutation, 2019, v. 40, n. 5, p. 497, doi. 10.1002/humu.23572
    Publication type:
    Article