Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 18

Results: 22
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    Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 3993, doi. 10.1093/hmg/dds222
    By:
    • Biswas, Kajal;
    • Das, Ranabir;
    • Eggington, Julie M.;
    • Qiao, Huanyu;
    • North, Susan L.;
    • Stauffer, Stacey;
    • Burkett, Sandra S.;
    • Martin, Betty K.;
    • Southon, Eileen;
    • Sizemore, Scott C.;
    • Pruss, Dmitry;
    • Bowles, Karla R.;
    • Roa, Benjamin B.;
    • Hunter, Neil;
    • Tessarollo, Lino;
    • Wenstrup, Richard J.;
    • Byrd, R. Andrew;
    • Sharan, Shyam K.
    Publication type:
    Article
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    7

    Miller (Genée–Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 3969, doi. 10.1093/hmg/dds218
    By:
    • Rainger, Joe;
    • Bengani, Hemant;
    • Campbell, Leigh;
    • Anderson, Eve;
    • Sokhi, Kishan;
    • Lam, Wayne;
    • Riess, Angelika;
    • Ansari, Morad;
    • Smithson, Sarah;
    • Lees, Melissa;
    • Mercer, Catherine;
    • McKenzie, Kathryn;
    • Lengfeld, Tobias;
    • Gener Querol, Blanca;
    • Branney, Peter;
    • McKay, Stewart;
    • Morrison, Harris;
    • Medina, Bethan;
    • Robertson, Morag;
    • Kohlhase, Jürgen
    Publication type:
    Article
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    Subscription Page.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds281
    Publication type:
    Article
    12

    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 4138, doi. 10.1093/hmg/dds225
    By:
    • Cipriani, Valentina;
    • Leung, Hin-Tak;
    • Plagnol, Vincent;
    • Bunce, Catey;
    • Khan, Jane C.;
    • Shahid, Humma;
    • Moore, Anthony T.;
    • Harding, Simon P.;
    • Bishop, Paul N.;
    • Hayward, Caroline;
    • Campbell, Susan;
    • Armbrecht, Ana Maria;
    • Dhillon, Baljean;
    • Deary, Ian J.;
    • Campbell, Harry;
    • Dunlop, Malcolm;
    • Dominiczak, Anna F.;
    • Mann, Samantha S.;
    • Jenkins, Sharon A.;
    • Webster, Andrew R.
    Publication type:
    Article
    13
    14

    Editorial Board.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds279
    Publication type:
    Article
    15

    Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 4115, doi. 10.1093/hmg/dds241
    By:
    • Wat, Margaret J.;
    • Beck, Tyler F.;
    • Hernández-García, Andrés;
    • Yu, Zhiyin;
    • Veenma, Danielle;
    • Garcia, Monica;
    • Holder, Ashley M.;
    • Wat, Jeanette J.;
    • Chen, Yuqing;
    • Mohila, Carrie A.;
    • Lally, Kevin P.;
    • Dickinson, Mary;
    • Tibboel, Dick;
    • de Klein, Annelies;
    • Lee, Brendan;
    • Scott, Daryl A.
    Publication type:
    Article
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    18

    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
    By:
    • Trabzuni, Daniah;
    • Wray, Selina;
    • Vandrovcova, Jana;
    • Ramasamy, Adaikalavan;
    • Walker, Robert;
    • Smith, Colin;
    • Luk, Connie;
    • Gibbs, J. Raphael;
    • Dillman, Allissa;
    • Hernandez, Dena G.;
    • Arepalli, Sampath;
    • Singleton, Andrew B.;
    • Cookson, Mark R.;
    • Pittman, Alan M.;
    • de Silva, Rohan;
    • Weale, Michael E.;
    • Hardy, John;
    • Ryten, Mina
    Publication type:
    Article
    19

    Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 4030, doi. 10.1093/hmg/dds227
    By:
    • Etain, Bruno;
    • Dumaine, Anne;
    • Bellivier, Frank;
    • Pagan, Cécile;
    • Francelle, Laetitia;
    • Goubran-Botros, Hany;
    • Moreno, Sarah;
    • Deshommes, Jasmine;
    • Moustafa, Khaled;
    • Le Dudal, Katia;
    • Mathieu, Flavie;
    • Henry, Chantal;
    • Kahn, Jean-Pierre;
    • Launay, Jean-Marie;
    • Mühleisen, Thomas W.;
    • Cichon, Sven;
    • Bourgeron, Thomas;
    • Leboyer, Marion;
    • Jamain, Stéphane
    Publication type:
    Article
    20

    Cover Page.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds277
    Publication type:
    Article
    21
    22

    Contents Page.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds275
    Publication type:
    Article