Found: 8

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  • Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

    Published in:
    2018
    By:
    • Nahorski, Michael S.;
    • Maddirevula, Sateesh;
    • Ryosuke Ishimura;
    • Alsahli, Saud;
    • Brady, Angela F.;
    • Begemann, Anaïs;
    • Tsunehiro Mizushima;
    • Guzmán-Vega, Francisco J.;
    • Miki Obata;
    • Yoshinobu Ichimura;
    • Alsaif, Hessa S.;
    • Anazi, Shams;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Monies, Dorota;
    • Abouelhoda, Mohamed;
    • Meyer, Brian F.;
    • Alfadhel, Majid;
    • Eyaid, Wafa
    Publication type:
    journal article

  • Elsahy–Waters syndrome is caused by biallelic mutations in <italic>CDH11</italic>.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 477, doi. 10.1002/ajmg.a.38568
    By:
    • Harms, Frederike L.;
    • Nampoothiri, Sheela;
    • Anazi, Shams;
    • Yesodharan, Dhanya;
    • Alawi, Malik;
    • Kutsche, Kerstin;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Novel copy number variants and major limb reduction malformation: Report of three cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1245, doi. 10.1002/ajmg.a.37550
    By:
    • Shamseldin, Hanan E.;
    • Anazi, Shams;
    • Wakil, Salma M.;
    • Faqeih, Eissa;
    • El Khashab, Heba Y.;
    • Salih, Mustafa A.;
    • Al‐Qattan, Mohammad M.;
    • Hashem, Mais;
    • Alsedairy, Haifa;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Correction to: Expanding the genetic heterogeneity of intellectual disability.

    Published in:
    2018
    By:
    • Anazi, Shams;
    • Maddirevula, Sateesh;
    • Salpietro, Vincenzo;
    • Asi, Yasmine T.;
    • Alsahli, Saud;
    • Alhashem, Amal;
    • Shamseldin, Hanan E.;
    • AlZahrani, Fatema;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous M.;
    • Hashem, Mais;
    • Alhashmi, Nadia;
    • Al Murshedi, Fathiya;
    • Al Kindy, Adila;
    • Alshaer, Ahmad;
    • Rumayyan, Ahmed;
    • Al Tala, Saeed;
    • Kurdi, Wesam;
    • Alsaman, Abdulaziz
    Publication type:
    Correction Notice

  • Expanding the genetic heterogeneity of intellectual disability.

    Published in:
    Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
    By:
    • Anazi, Shams;
    • Maddirevula, Sateesh;
    • Salpietro, Vincenzo;
    • Asi, Yasmine;
    • Alsahli, Saud;
    • Alhashem, Amal;
    • Shamseldin, Hanan;
    • AlZahrani, Fatema;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alhashmi, Nadia;
    • Al Murshedi, Fathiya;
    • Al Kindy, Adila;
    • Alshaer, Ahmad;
    • Rumayyan, Ahmed;
    • Al Tala, Saeed;
    • Kurdi, Wesam;
    • Alsaman, Abdulaziz
    Publication type:
    Article

  • A null mutation in TNIK defines a novel locus for intellectual disability.

    Published in:
    Human Genetics, 2016, v. 135, n. 7, p. 773, doi. 10.1007/s00439-016-1671-9
    By:
    • Anazi, Shams;
    • Shamseldin, Hanan;
    • AlNaqeb, Dhekra;
    • Abouelhoda, Mohamed;
    • Monies, Dorota;
    • Salih, Mustafa;
    • Al-Rubeaan, Khalid;
    • Alkuraya, Fowzan
    Publication type:
    Article

  • The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
    By:
    • Alshenaifi, Jumanah;
    • Ewida, Nour;
    • Anazi, Shams;
    • Shamseldin, Hanan E.;
    • Patel, Nisha;
    • Maddirevula, Sateesh;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Jacob, Minnie;
    • Alhashem, Amal;
    • Alzaidan, Hamad I.;
    • Seidahmed, Mohammed Z.;
    • Alhashemi, Nadia;
    • Rawashdeh, Rifaat;
    • Eyaid, Wafaa;
    • Al‐Hassnan, Zuhair N.
    Publication type:
    Article

  • IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 12, p. 3307, doi. 10.1093/hmg/ddu044
    By:
    • Aldahmesh, Mohammed A.;
    • Li, Yuanyuan;
    • Alhashem, Amal;
    • Anazi, Shams;
    • Alkuraya, Hisham;
    • Hashem, Mais;
    • Awaji, Ali A.;
    • Sogaty, Sameera;
    • Alkharashi, Abdullah;
    • Alzahrani, Saeed;
    • Al Hazzaa, Selwa A.;
    • Xiong, Yong;
    • Kong, Shanshan;
    • Sun, Zhaoxia;
    • Alkuraya, Fowzan S.
    Publication type:
    Article