Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 3

Results: 8
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    Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
    By:
    • Negri, Gloria;
    • Magini, Pamela;
    • Milani, Donatella;
    • Crippa, Milena;
    • Biamino, Elisa;
    • Piccione, Maria;
    • Sotgiu, Stefano;
    • Perrìa, Chiara;
    • Vitiello, Giuseppina;
    • Frontali, Marina;
    • Boni, Antonella;
    • Di Fede, Elisabetta;
    • Gandini, Maria Chiara;
    • Colombo, Elisa Adele;
    • Bamshad, Michael J.;
    • Nickerson, Deborah A.;
    • Smith, Joshua D.;
    • Loddo, Italia;
    • Finelli, Palma;
    • Seri, Marco
    Publication type:
    Article
    3

    A response to “Personalised medicine and population health: breast and ovarian cancer”.

    Published in:
    2019
    By:
    • Antoniou, Antonis;
    • Anton-Culver, Hoda;
    • Borowsky, Alexander;
    • Broeders, Mireille;
    • Brooks, Jennifer;
    • Chiarelli, Anna;
    • Chiquette, Jocelyne;
    • Cuzick, Jack;
    • Delaloge, Suzette;
    • Devilee, Peter;
    • Dorval, Michael;
    • Easton, Douglas;
    • Eisen, Andrea;
    • Eklund, Martin;
    • Eloy, Laurence;
    • Esserman, Laura;
    • Garcia-Closas, Montserrat;
    • Goldgar, David;
    • Hall, Per;
    • Knoppers, Bartha Maria
    Publication type:
    Letter to the Editor
    4

    Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 241, doi. 10.1007/s00439-019-01983-0
    By:
    • Ruhno, Corey;
    • McGovern, Vicki L.;
    • Avenarius, Matthew R.;
    • Snyder, Pamela J.;
    • Prior, Thomas W.;
    • Nery, Flavia C.;
    • Muhtaseb, Abdurrahman;
    • Roggenbuck, Jennifer S.;
    • Kissel, John T.;
    • Sansone, Valeria A.;
    • Siranosian, Jennifer J.;
    • Johnstone, Alec J.;
    • Nwe, Pann H.;
    • Zhang, Ren Z.;
    • Swoboda, Kathryn J.;
    • Burghes, Arthur H. M.
    Publication type:
    Article
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    8

    Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 211, doi. 10.1007/s00439-019-01978-x
    By:
    • Amar, Ali;
    • Majmundar, Amar J.;
    • Ullah, Ihsan;
    • Afzal, Ayesha;
    • Braun, Daniela A.;
    • Shril, Shirlee;
    • Daga, Ankana;
    • Jobst-Schwan, Tilman;
    • Ahmad, Mumtaz;
    • Sayer, John A.;
    • Gee, Heon Yung;
    • Halbritter, Jan;
    • Knöpfel, Thomas;
    • Hernando, Nati;
    • Werner, Andreas;
    • Wagner, Carsten;
    • Khaliq, Shagufta;
    • Hildebrandt, Friedhelm
    Publication type:
    Article