Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 11

Results: 36
    1
    2
    3
    4
    5
    6

    Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2954, doi. 10.1002/ajmg.a.38459
    By:
    • Kılıç, Mustafa;
    • Dursun, Ali;
    • Coşkun, Turgay;
    • Tokatlı, Ayşegül;
    • Özgül, Rıza K.;
    • Yücel‐Yılmaz, Didem;
    • Karaca, Mehmet;
    • Doğru, Deniz;
    • Alehan, Dursun;
    • Kadayıfçılar, Sibel;
    • Genç, Aydan;
    • Turan‐Dizdar, Handan;
    • Gönüldaş, Burhanettin;
    • Savcı, Sema;
    • Sağlam, Melda;
    • Aksoy, Cemalettin;
    • Arslan, Umut;
    • Sivri, Hatice‐Serap
    Publication type:
    Article
    7

    Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3087, doi. 10.1002/ajmg.a.38400
    By:
    • Thibodeau, My Linh;
    • Peters, Colin H.;
    • Townsend, Katelin N.;
    • Shen, Yaoqing;
    • Hendson, Glenda;
    • Adam, Shelin;
    • Selby, Kathryn;
    • Macleod, Patrick M.;
    • Gershome, Cynthia;
    • Ruben, Peter;
    • Jones, Steven J. M.;
    • Friedman, Jan M.;
    • Gibson, William T.;
    • Horvath, Gabriella A.
    Publication type:
    Article
    8

    Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3093, doi. 10.1002/ajmg.a.38403
    By:
    • Kalinska‐Bienias, Agnieszka;
    • Pollak, Agnieszka;
    • Kowalewski, Cezary;
    • Lechowicz, Urszula;
    • Stawinski, Piotr;
    • Gergont, Aleksandra;
    • Kosinska, Joanna;
    • Pronicka, Ewa;
    • Kowalski, Pawel;
    • Wozniak, Katarzyna;
    • Ploski, Rafal
    Publication type:
    Article
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18

    De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3003, doi. 10.1002/ajmg.a.38492
    By:
    • Yates, T. Michael;
    • Vasudevan, Pradeep C.;
    • Chandler, Kate E.;
    • Donnelly, Deirdre E;
    • Stark, Zornitza;
    • Sadedin, Simon;
    • Willoughby, Josh;
    • Balasubramanian, Meena
    Publication type:
    Article
    19
    20

    Cover Image, Volume 173A, Number 11, November 2017.

    Published in:
    2017
    By:
    • Justice, Cristina M.;
    • Kim, Jinoh;
    • Kim, Sun‐Don;
    • Kim, Kyunhgho;
    • Yagnik, Garima;
    • Cuellar, Araceli;
    • Carrington, Blake;
    • Lu, Chung‐Ling;
    • Sood, Raman;
    • Boyadjiev, Simeon A.;
    • Wilson, Alexander F.
    Publication type:
    Other
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33

    Congenital heart defects in molecularly proven Kabuki syndrome patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2912, doi. 10.1002/ajmg.a.38417
    By:
    • Digilio, Maria Cristina;
    • Gnazzo, Maria;
    • Lepri, Francesca;
    • Dentici, Maria Lisa;
    • Pisaneschi, Elisa;
    • Baban, Anwar;
    • Passarelli, Chiara;
    • Capolino, Rossella;
    • Angioni, Adriano;
    • Novelli, Antonio;
    • Marino, Bruno;
    • Dallapiccola, Bruno
    Publication type:
    Article
    34
    35
    36