Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 11/12

Results: 19
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    Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
    By:
    • Llaci, Lorida;
    • Ramsey, Keri;
    • Belnap, Newell;
    • Claasen, Ana M.;
    • Balak, Chris D.;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne M.;
    • Siniard, Ashley L.;
    • Richholt, Ryan;
    • Izat, Tyler;
    • Naymik, Marcus;
    • De Both, Matt;
    • Piras, Ignazio S.;
    • Craig, David W.;
    • Huentelman, Matthew J.;
    • Narayanan, Vinodh;
    • Schrauwen, Isabelle;
    • Rangasamy, Sampathkumar
    Publication type:
    Article
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    Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
    By:
    • Horga, Alejandro;
    • Woodward, Catherine E.;
    • Mills, Alberto;
    • Pareés, Isabel;
    • Hargreaves, Iain P.;
    • Brown, Ruth M.;
    • Bugiardini, Enrico;
    • Brooks, Tony;
    • Manole, Andreea;
    • Remzova, Elena;
    • Rahman, Shamima;
    • Reilly, Mary M.;
    • Houlden, Henry;
    • Sweeney, Mary G.;
    • Brown, Garry K.;
    • Polke, James M.;
    • Gago, Federico;
    • Parton, Matthew J.;
    • Pitceathly, Robert D. S.;
    • Hanna, Michael G.
    Publication type:
    Article
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    Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1301, doi. 10.1007/s00439-019-02073-x
    By:
    • Szafranski, Przemyslaw;
    • Liu, Qian;
    • Karolak, Justyna A.;
    • Song, Xiaofei;
    • de Leeuw, Nicole;
    • Faas, Brigitte;
    • Gerychova, Romana;
    • Janku, Petr;
    • Jezova, Marta;
    • Valaskova, Iveta;
    • Gibbs, Kathleen A.;
    • Surrey, Lea F.;
    • Poisson, Virginie;
    • Bérubé, Denis;
    • Oligny, Luc L.;
    • Michaud, Jacques L.;
    • Popek, Edwina;
    • Stankiewicz, Paweł
    Publication type:
    Article
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    Arteriovenous malformation associated with a HRAS mutation.

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1419, doi. 10.1007/s00439-019-02072-y
    By:
    • Konczyk, Dennis J.;
    • Goss, Jeremy A.;
    • Smits, Patrick J.;
    • Huang, August Y.;
    • Al-Ibraheemi, Alyaa;
    • Sudduth, Christopher L.;
    • Warman, Matthew L.;
    • Greene, Arin K.
    Publication type:
    Article
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    Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis.

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1267, doi. 10.1007/s00439-019-02066-w
    By:
    • Fonseca, Dora Janeth;
    • Caro, Luz Adriana;
    • Sierra-Díaz, Diana Carolina;
    • Serrano-Reyes, Carlos;
    • Londoño, Olga;
    • Suárez, Yohjana Carolina;
    • Mateus, Heidi Eliana;
    • Bolívar-Salazar, David;
    • Ramírez, Ana Francisca;
    • de-la-Torre, Alejandra;
    • Laissue, Paul
    Publication type:
    Article
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    Rare variants in FANCA induce premature ovarian insufficiency.

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1227, doi. 10.1007/s00439-019-02059-9
    By:
    • Yang, Xi;
    • Zhang, Xiaojin;
    • Jiao, Jiao;
    • Zhang, Feng;
    • Pan, Yuncheng;
    • Wang, Qiqi;
    • Chen, Qing;
    • Cai, Baozhu;
    • Tang, Shuyan;
    • Zhou, Zixue;
    • Chen, Siyuan;
    • Yin, Hao;
    • Fu, Wei;
    • Luo, Yang;
    • Li, Da;
    • Li, Guoqing;
    • Shang, Lingyue;
    • Yang, Jialing;
    • Jin, Li;
    • Shi, Qinghua
    Publication type:
    Article