Found: 14

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  • 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

  • Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
    By:
    • AlAbdi, Lama;
    • Shamseldin, Hanan E.;
    • Khouj, Ebtissal;
    • Helaby, Rana;
    • Aljamal, Bayan;
    • Alqahtani, Mashael;
    • Almulhim, Aisha;
    • Hamid, Halima;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Abouyousef, Omar;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Al-Owain, Mohammed;
    • Alhashem, Amal;
    • Al Tala, Saeed;
    • Khan, Arif O.;
    • Mardawi, Elham;
    • Alkuraya, Hisham;
    • Faqeih, Eissa
    Publication type:
    Article

  • In search of triallelism in Bardet-Biedl syndrome.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 4, p. 420, doi. 10.1038/ejhg.2011.205
    By:
    • Abu-Safieh, Leen;
    • Al-Anazi, Shamsa;
    • Al-Abdi, Lama;
    • Hashem, Mais;
    • Alkuraya, Hisham;
    • Alamr, Mushari;
    • Sirelkhatim, Mugtaba O;
    • Al-Hassnan, Zuhair;
    • Alkuraya, Basim;
    • Mohamed, Jawahir Y;
    • Al-Salem, Ahmad;
    • Alrashed, May;
    • Faqeih, Eissa;
    • Softah, Ameen;
    • Al-Hashem, Amal;
    • Wali, Sami;
    • Rahbeeni, Zuhair;
    • Alsayed, Moeen;
    • Khan, Arif O;
    • Al-Gazali, Lihadh
    Publication type:
    Article

  • Front Cover.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 3, p. i, doi. 10.1111/cge.13724
    By:
    • Alkuraya, Hisham;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Al Ghamdi, Bandar;
    • Alsulaiman, Sulaiman M.;
    • Nowilaty, Sawsan R.;
    • Abboud, Emad;
    • Alturki, Ramadan;
    • Alkharashi, Abdullah;
    • Eyaid, Wafaa;
    • Almasseri, Zainab;
    • Alzaidan, Hamad;
    • Alotaibi, Mohammed D.;
    • Abu El‐Asrar, Ahmed M.;
    • Alamro, Bandar;
    • Helaby, Rana;
    • Elshaer, Amani;
    • Almontashiri, Naif A.M.;
    • Al‐Hussaini, Abdulrahman A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 3, p. 447, doi. 10.1111/cge.13676
    By:
    • Alkuraya, Hisham;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Al Ghamdi, Bandar;
    • Alsulaiman, Sulaiman M.;
    • Nowilaty, Sawsan R.;
    • Abboud, Emad;
    • Alturki, Ramadan;
    • Alkharashi, Abdullah;
    • Eyaid, Wafaa;
    • Almasseri, Zainab;
    • Alzaidan, Hamad;
    • Alotaibi, Mohammed D.;
    • Abu El‐Asrar, Ahmed M.;
    • Alamro, Bandar;
    • Helaby, Rana;
    • Elshaer, Amani;
    • Almontashiri, Naif A.M.;
    • Al‐Hussaini, Abdulrahman A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Argon Laser Photoablation for Treating Benign Pigmented Conjunctival Nevi.

    Published in:
    Middle East African Journal of Ophthalmology, 2016, v. 23, n. 3, p. 247, doi. 10.4103/0974-9233.186098
    By:
    • Alsharif, Abdulrahman M.;
    • Al-Gehedan, Saeed M.;
    • Alasbali, Tariq;
    • Alkuraya, Hisham S.;
    • Lotfy, Nancy M.;
    • Khandekar, Rajiv
    Publication type:
    Article

  • Lack of Correlation Between Diabetic Macular Edema and Thickness of the Peripapillary Retinal Nerve Fibre Layer.

    Published in:
    Middle East African Journal of Ophthalmology, 2016, v. 23, n. 3, p. 241, doi. 10.4103/0974-9233.186097
    By:
    • Alkuraya, Hisham S.;
    • Al-Gehedan, Saeed M.;
    • Alsharif, Abdulrahman M.;
    • Alasbali, Tariq;
    • Lotfy, Nancy M.;
    • Khandekar, Rajiv
    Publication type:
    Article

  • Cataract Surgery Audit at a Private Hospital in Saudi Arabia.

    Published in:
    Middle East African Journal of Ophthalmology, 2015, v. 22, n. 4, p. 502, doi. 10.4103/0974-9233.167820
    By:
    • Alasbali, Tariq;
    • Lofty, Nancy Maher;
    • Al-Gehaban, Saeed;
    • Alkuraya, Hisham S.;
    • Alsharif, Abdulrahman M.;
    • Khandekar, Rajiv
    Publication type:
    Article

  • Congenital glaucoma and CYP1B1: an old story revisited.

    Published in:
    Human Genetics, 2019, v. 138, n. 8/9, p. 1043, doi. 10.1007/s00439-018-1878-z
    By:
    • Alsaif, Hessa S.;
    • Khan, Arif O.;
    • Patel, Nisha;
    • Alkuraya, Hisham;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Ibrahim, Niema;
    • Aldahmesh, Mohammed A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.

    Published in:
    Human Genetics, 2016, v. 135, n. 3, p. 327, doi. 10.1007/s00439-016-1637-y
    By:
    • Ghazi, Nicola;
    • Abboud, Emad;
    • Nowilaty, Sawsan;
    • Alkuraya, Hisham;
    • Alhommadi, Abdulrahman;
    • Cai, Huimin;
    • Hou, Rui;
    • Deng, Wen-Tao;
    • Boye, Sanford;
    • Almaghamsi, Abdulrahman;
    • Al Saikhan, Fahad;
    • Al-Dhibi, Hassan;
    • Birch, David;
    • Chung, Christopher;
    • Colak, Dilek;
    • LaVail, Matthew;
    • Vollrath, Douglas;
    • Erger, Kirsten;
    • Wang, Wenqiu;
    • Conlon, Thomas
    Publication type:
    Article

  • Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.

    Published in:
    Human Genetics, 2016, v. 135, n. 2, p. 193, doi. 10.1007/s00439-015-1624-8
    By:
    • Shtir, Corina;
    • Aldahmesh, Mohammed;
    • Al-Dahmash, Saad;
    • Abboud, Emad;
    • Alkuraya, Hisham;
    • Abouammoh, Marwan A.;
    • Nowailaty, Sawsan R.;
    • Al-Thubaiti, Ghazai;
    • Naim, E.;
    • ALYounes, B.;
    • Binhumaid, F.;
    • ALOtaibi, A.;
    • Altamimi, A.;
    • Alamer, F.;
    • Hashem, Mais;
    • Abouelhoda, Mohamed;
    • Monies, Dorota;
    • Alkuraya, Fowzan
    Publication type:
    Article

  • The correlation between optical coherence tomographic features and severity of retinopathy, macular thickness and visual acuity in diabetic macular edema.

    Published in:
    International Ophthalmology, 2005, v. 26, n. 3, p. 93, doi. 10.1007/s10792-006-9007-8
    By:
    • Alkuraya, Hisham;
    • Kangave, Dustan;
    • Abu El-Asrar, Ahmed
    Publication type:
    Article

  • Characterizing the morbid genome of ciliopathies.

    Published in:
    Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1099-5
    By:
    • Shaheen, Ranad;
    • Katarzyna Szymanska;
    • Basu, Basudha;
    • Patel, Nisha;
    • Ewida, Nour;
    • Faqeih, Eissa;
    • Hashem, Amal Al;
    • Derar, Nada;
    • Alsharif, Hadeel;
    • Aldahmesh, Mohammed A.;
    • Alazami, Anas M.;
    • Hashem, Mais;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous M.;
    • Sonbul, Rawda;
    • Hisham Alkuraya;
    • Alnemer, Maha;
    • Tala, Saeed Al;
    • Al-Husain, Muneera;
    • Morsy, Heba
    Publication type:
    Article

  • Further delineation of HIDEA syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2999, doi. 10.1002/ajmg.a.61885
    By:
    • Maddirevula, Sateesh;
    • Ben‐Omran, Tawfeg;
    • AlMureikhi, Mariam;
    • Eyaid, Wafa;
    • Arabi, Hisham;
    • Alkuraya, Hisham;
    • Alfaifi, Abdullah;
    • Alfalah, Abdullah Hamed;
    • Alsaif, Hessa S.;
    • Abdulwahab, Firdous;
    • Alfadhel, Majid;
    • Alkuraya, Fowzan S.
    Publication type:
    Article