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JBCGenetics. Year: 2018, Volume: 1, Issue: 2

    Editorial

  1. Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1546945268» Cited: 3

    2. Original Research (Original Article)

  2. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies
    Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali
    JBCGenetics. 2018; 1(2): 53-56
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1542546893

    3. Review Article

  3. Established Type 2 Diabetes-Susceptibility Genetic Variants in Saudi ethnicity: A Mini-Systematic Review
    Khalid Siddiqui, Mohthash Musambil, Adnan Mahmood Usmani
    JBCGenetics. 2018; 1(2): 57-65
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1540811228» Cited: 1

  4. Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1530765389» Cited: 3

    5. Case Report

  5. Dilated cardiomyopathy in a child with truncating mutation in NRAP gene
    Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi
    JBCGenetics. 2018; 1(2): 77-80
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1542267981» Cited: 1

  6. A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene
    Muhsin Elmas, Basak Gogus,
    JBCGenetics. 2018; 1(2): 81-83
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1541166651

  7. Denys-Drash Syndrome: a case report
    Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri
    JBCGenetics. 2018; 1(2): 84-86
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1542382146

  8. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature
    Nourah Alruqaie, Majid Alfadhel
    JBCGenetics. 2018; 1(2): 87-92
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1529491124» Cited: 2

  9. A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman
    Musallam Said Al-Araimi, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, Salma Mohammed Al-Harasi
    JBCGenetics. 2018; 1(2): 93-97
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1532358706

  10. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy
    Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai
    JBCGenetics. 2018; 1(2): 98-101
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1530603908