Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 8

Results: 8
    1

    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

    Published in:
    Human Genetics, 2017, v. 136, n. 8, p. 921, doi. 10.1007/s00439-017-1821-8
    By:
    • Monies, Dorota;
    • Abouelhoda, Mohamed;
    • AlSayed, Moeenaldeen;
    • Alhassnan, Zuhair;
    • Alotaibi, Maha;
    • Kayyali, Husam;
    • Al-Owain, Mohammed;
    • Shah, Ayaz;
    • Rahbeeni, Zuhair;
    • Al-Muhaizea, Mohammad;
    • Alzaidan, Hamad;
    • Cupler, Edward;
    • Bohlega, Saeed;
    • Faqeih, Eissa;
    • Faden, Maha;
    • Alyounes, Banan;
    • Jaroudi, Dyala;
    • Goljan, Ewa;
    • Elbardisy, Hadeel;
    • Akilan, Asma
    Publication type:
    Article
    2

    Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility.

    Published in:
    Human Genetics, 2017, v. 136, n. 8, p. 975, doi. 10.1007/s00439-017-1822-7
    By:
    • Liu, Wenqiang;
    • Li, Kunming;
    • Bai, Dandan;
    • Yin, Jiqing;
    • Tang, Yuanyuan;
    • Chi, Fengli;
    • Zhang, Linfeng;
    • Wang, Yu;
    • Pan, Jiaping;
    • Liang, Shanshan;
    • Guo, Yi;
    • Ruan, Jingling;
    • Kou, Xiaochen;
    • Zhao, Yanhong;
    • Wang, Hong;
    • Chen, Jiayu;
    • Teng, Xiaoming;
    • Gao, Shaorong
    Publication type:
    Article
    3

    Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.

    Published in:
    Human Genetics, 2017, v. 136, n. 8, p. 941, doi. 10.1007/s00439-017-1823-6
    By:
    • Kabra, Meha;
    • Zhang, Wei;
    • Rathi, Sonika;
    • Mandal, Anil;
    • Senthil, Sirisha;
    • Pyatla, Goutham;
    • Ramappa, Muralidhar;
    • Banerjee, Seema;
    • Shekhar, Konegari;
    • Marmamula, Srinivas;
    • Mettla, Asha;
    • Kaur, Inderjeet;
    • Khanna, Rohit;
    • Khanna, Hemant;
    • Chakrabarti, Subhabrata
    Publication type:
    Article
    4
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    7

    Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

    Published in:
    2017
    By:
    • Zhang, Jing;
    • Gambin, Tomasz;
    • Yuan, Bo;
    • Szafranski, Przemyslaw;
    • Rosenfeld, Jill;
    • Balwi, Mohammed;
    • Alswaid, Abdulrahman;
    • Al-Gazali, Lihadh;
    • Shamsi, Aisha;
    • Komara, Makanko;
    • Ali, Bassam;
    • Roeder, Elizabeth;
    • McAuley, Laura;
    • Roy, Daniel;
    • Manchester, David;
    • Magoulas, Pilar;
    • King, Lauren;
    • Hannig, Vickie;
    • Bonneau, Dominique;
    • Denommé-Pichon, Anne-Sophie
    Publication type:
    Erratum
    8