Works matching IS 00099163 AND DT 2019 AND VI 96 AND IP 3

Results: 14
    1
    2

    Evaluation of SHOX defects in the era of next‐generation sequencing.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 3, p. 261, doi. 10.1111/cge.13587
    By:
    • Funari, Mariana F.A.;
    • Barros, Juliana S.;
    • Santana, Lucas S.;
    • Lerario, Antonio M.;
    • Freire, Bruna L.;
    • Homma, Thais K.;
    • Vasques, Gabriela A.;
    • Mendonca, Berenice B.;
    • Nishi, Mirian Y.;
    • Jorge, Alexander A.L.
    Publication type:
    Article
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12

    Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 3, p. 246, doi. 10.1111/cge.13565
    By:
    • Sinibaldi, Lorenzo;
    • Parisi, Valentina;
    • Lanciotti, Silvia;
    • Fontana, Paolo;
    • Kuechler, Alma;
    • Baujat, Genevieve;
    • Torres, Barbara;
    • Koetting, Judith;
    • Splendiani, Alessandra;
    • Postorivo, Diana;
    • Beygo, Jasmin;
    • Garaci, Francesco G.;
    • Malan, Valerie;
    • Lüdecke, Hermann‐Josef;
    • Guida, Valentina;
    • Krumbiegel, Mandy;
    • Lonardo, Fortunato;
    • Novelli, Antonio;
    • Albrecht, Beate;
    • Perria, Chiara
    Publication type:
    Article
    13

    Congenital muscular dystrophies in China.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 3, p. 207, doi. 10.1111/cge.13560
    By:
    • Ge, Lin;
    • Zhang, Cheng;
    • Wang, Zhaoxia;
    • Chan, Sophelia H.S.;
    • Zhu, Wenhua;
    • Han, Chunxi;
    • Zhang, Xiaoli;
    • Zheng, Hong;
    • Wu, Liwen;
    • Jin, Bo;
    • Shan, Jingli;
    • Mao, Bing;
    • Zhong, Jianmin;
    • Peng, Xiaoyin;
    • Cheng, Yaying;
    • Hu, Jun;
    • Sun, Yan;
    • Lu, Junlan;
    • Hua, Ying;
    • Zhu, Sainan
    Publication type:
    Article
    14

    Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 3, p. 199, doi. 10.1111/cge.13556
    By:
    • Callaghan, Daniel Benjamin;
    • Rogic, Sanja;
    • Tan, Powell Patrick Cheng;
    • Calli, Kristina;
    • Qiao, Ying;
    • Baldwin, Robert;
    • Jacobson, Matthew;
    • Belmadani, Manuel;
    • Holmes, Nathan;
    • Yu, Chang;
    • Li, Yanchen;
    • Li, Yingrui;
    • Kurtzke, Franz‐Edward;
    • Kuzeljevic, Boris;
    • Yu, An Yi;
    • Hudson, Melissa;
    • Mcaughton, Amy J.M.;
    • Xu, Yuchen;
    • Dionne‐Laporte, Alexandre;
    • Girard, Simon
    Publication type:
    Article