Found: 9

Select item for more details and to access through your institution.

  • Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

    Published in:
    2016
    By:
    • Zain Seidahmed, Mohammed;
    • Salih, Mustafa A.;
    • Abdulbasit, Omer B.;
    • Samadi, Abdulmohsen;
    • Al Hussien, Khalid;
    • Miqdad, Abeer M.;
    • Biary, Maha S.;
    • Alazami, Anas M.;
    • Alorainy, Ibrahim A.;
    • Kabiraj, Mohammad M.;
    • Shaheen, Ranad;
    • Alkuraya, Fowzan S.;
    • Seidahmed, Mohammed Zain
    Publication type:
    journal article

  • The genetic landscape of familial congenital hydrocephalus.

    Published in:
    2017
    By:
    • Shaheen, Ranad;
    • Sebai, Mohammed Adeeb;
    • Patel, Nisha;
    • Ewida, Nour;
    • Kurdi, Wesam;
    • Altweijri, Ikhlass;
    • Sogaty, Sameera;
    • Almardawi, Elham;
    • Seidahmed, Mohammed Zain;
    • Alnemri, Abdulrahman;
    • Madirevula, Sateesh;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Sallout, Bahauddin;
    • AlBaqawi, Badi;
    • AlAali, Wajeih
    Publication type:
    journal article

  • Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 1013, doi. 10.1002/acn3.51074
    By:
    • Blackburn, Patrick R.;
    • Schultz, Matthew J.;
    • Lahner, Carrie A.;
    • Li, Dong;
    • Bhoj, Elizabeth;
    • Fisher, Laura J.;
    • Renaud, Deborah L.;
    • Kenney, Amy;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Zain Seidahmed, Mohammed;
    • Hasadsri, Linda;
    • Schrier Vergano, Samantha A.;
    • Alkuraya, Fowzan S.;
    • Lanpher, Brendan C.
    Publication type:
    Article

  • Congenital Midline Cervical Cleft: Case Report and Literature Review.

    Published in:
    2015
    By:
    • Elamin Oshi, Amira Mohammed;
    • Safar Al-Sofiani, Medhat Mahmoud;
    • Abdulbasit, Omar Bashir;
    • Al Bhlal, Lulu Ahmed;
    • Seidahmed, Mohammed Zain
    Publication type:
    Case Study

  • Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

    Published in:
    Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
    By:
    • Seidahmed, Mohammed Zain;
    • Al-Kindi, Adila;
    • Alsaif, Hessa S.;
    • Miqdad, Abeer;
    • Alabbad, Nasser;
    • Alfifi, Abdallah;
    • Abdelbasit, Omer Bashir;
    • Alhussein, Khalid;
    • Alsamadi, Abdulmohsen;
    • Ibrahim, Niema;
    • Al-Futaisi, Amna;
    • Al-Maawali, Almundher;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Identification of a novel MKS locus defined by TMEM107 mutation.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 18, p. 5211, doi. 10.1093/hmg/ddv242
    By:
    • Shaheen, Ranad;
    • Almoisheer, Agaadir;
    • Faqeih, Eissa;
    • Babay, Zainab;
    • Monies, Dorota;
    • Tassan, Nada;
    • Abouelhoda, Mohamed;
    • Kurdi, Wesam;
    • Al Mardawi, Elham;
    • Khalil, Mohamed M. I.;
    • Seidahmed, Mohammed Zain;
    • Alnemer, Maha;
    • Alsahan, Nada;
    • Sogaty, Samira;
    • Alhashem, Amal;
    • Singh, Ankur;
    • Goyal, Manisha;
    • Kapoor, Seema;
    • Alomar, Rana;
    • Ibrahim, Niema
    Publication type:
    Article

  • Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 945, doi. 10.1002/ajmg.a.62052
    By:
    • Seidahmed, Mohammed Zain;
    • Maddirevula, Sateesh;
    • Miqdad, Abeer M.;
    • Al Faifi, Abdullah;
    • Al Samadi, Abdulmohsen;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2219, doi. 10.1002/ajmg.a.37768
    By:
    • Seidahmed, Mohammed Zain;
    • Salih, Mustafa A.;
    • Abdelbasit, Omer Bashir;
    • Alassiri, Ali H.;
    • Hussein, Khalid Al;
    • Miqdad, Abeer;
    • Samadi, Abdelmohsin;
    • Rasheed, Abdallah Al;
    • Alorainy, Ibrahim A.;
    • Shaheen, Ranad;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Report of a case of Raine syndrome and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2394, doi. 10.1002/ajmg.a.37159
    By:
    • Seidahmed, Mohammed Zain;
    • Alazami, Anas M.;
    • Abdelbasit, Omer Bashir;
    • Al Hussein, Khalid;
    • Miqdad, Abeer M.;
    • Abu‐Sa'da, Omar;
    • Mustafa, Tareq;
    • Bahjat, Sarah;
    • Alkuraya, Fowzan S.
    Publication type:
    Article