Works matching IS 00099163 AND DT 2020 AND VI 97 AND IP 5

Results: 22
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    Front Cover.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 5, p. i, doi. 10.1111/cge.13758
    By:
    • Tu, Chaofeng;
    • Wang, Ying;
    • Nie, Hongchuan;
    • Meng, Lanlan;
    • Wang, Weili;
    • Li, Yong;
    • Li, Dongyan;
    • Zhang, Huan;
    • Lu, Guangxiu;
    • Lin, Ge;
    • Tan, Yue‐Qiu;
    • Du, Juan
    Publication type:
    Article
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    Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 5, p. 747, doi. 10.1111/cge.13715
    By:
    • Lee, Han‐Chih Hencher;
    • Wong, Shun;
    • Sheng, Bun;
    • Pan, Nin‐Yuan Keith;
    • Leung, Ying‐Kit Frank;
    • Lau, Kwok‐Kwong Dominic;
    • Cheng, Yue Sandy;
    • Ho, Luen‐Cheung;
    • Li, Richard;
    • Lee, Chi‐Nam;
    • Tsoi, Tak‐Hong;
    • Cheung, Yuk‐Fai Nelson;
    • Fu, Yat‐Pang Michael;
    • Kan, Nim‐Chi Amanda;
    • Chu, Yim‐Pui;
    • Au, Wing‐Chi Lisa;
    • Yeung, Hon‐Ming Jonas;
    • Li, Siu‐Hung;
    • Cheung, Chi‐Fung Mark;
    • Tong, Hok‐Fung
    Publication type:
    Article
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    The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722
    By:
    • Siggs, Owen M.;
    • Awadalla, Mona S.;
    • Souzeau, Emmanuelle;
    • Staffieri, Sandra E.;
    • Kearns, Lisa S.;
    • Laurie, Kate;
    • Kuot, Abraham;
    • Qassim, Ayub;
    • Edwards, Thomas L.;
    • Coote, Michael A.;
    • Mancel, Erica;
    • Walland, Mark J.;
    • Dondey, Joanne;
    • Galanopoulous, Anna;
    • Casson, Robert J.;
    • Mills, Richard A.;
    • MacArthur, Daniel G.;
    • Ruddle, Jonathan B.;
    • Burdon, Kathryn P.;
    • Craig, Jamie E.
    Publication type:
    Article
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    Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 5, p. 731, doi. 10.1111/cge.13701
    By:
    • López‐Gallardo, Ester;
    • Cammarata‐Scalisi, Francisco;
    • Emperador, Sonia;
    • Hernández‐Ainsa, Carmen;
    • Habbane, Mouna;
    • Vela‐Sebastián, Ana;
    • Bayona‐Bafaluy, María Pilar;
    • Montoya, Julio;
    • Ruiz‐Pesini, Eduardo
    Publication type:
    Article
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    Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
    By:
    • Marsili, Luisa;
    • Overwater, Eline;
    • Hanna, Nadine;
    • Baujat, Geneviève;
    • Baars, Marieke J.H.;
    • Boileau, Catherine;
    • Bonneau, Dominique;
    • Brehin, Anne Claire;
    • Capri, Yline;
    • Cheung, Ho Y.;
    • Dulfer, Eelco;
    • Gerard, Marion;
    • Gouya, Laurent;
    • Hilhorst‐Hofstee, Yvonne;
    • Houweling, Arjan C.;
    • Isidor, Bertrand;
    • Le Gloan, Lauriane;
    • Menke, Leonie A.;
    • Odent, Sylvie;
    • Morice‐Picard, Fanny
    Publication type:
    Article
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    Novel EWSR1‐VGLL1 fusion in a pediatric neuroepithelial neoplasm.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 5, p. 791, doi. 10.1111/cge.13703
    By:
    • Kundishora, Adam J.;
    • Reeves, Benjamin C.;
    • Nelson‐Williams, Carol;
    • Hong, Christopher S.;
    • Gopal, Pallavi P.;
    • Snuderl, Matija;
    • Kahle, Kristopher T.;
    • Erson‐Omay, E. Zeynep
    Publication type:
    Article
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    Issue Information.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 5, p. 675, doi. 10.1111/cge.13571
    Publication type:
    Article