E-ISSN 1658-8088 | ISSN 1658-807X
 

JBCGenetics. Year: 2022, Volume: 5, Issue: 1

    Original Article

  1. Assessing the knowledge and awareness of the Taif community about genetic diseases
    Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti
    JBCGenetics. 2022; 5(1): 1-11
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1647436069

  2. Review Article

  3. Genetic landscape of epilepsies in Kingdom of Saudi Arabia: a brief review
    Waleed Altwaijri
    JBCGenetics. 2022; 5(1): 12-16
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1628079617

  4. Case Report

  5. Tyrosinemia type I: an unusual case presentation
    Marwa ALMahroos, Mohammed AlMannai
    JBCGenetics. 2022; 5(1): 17-19
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1624791068

  6. A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia
    Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan
    JBCGenetics. 2022; 5(1): 20-24
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1630496130

  7. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism
    Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser
    JBCGenetics. 2022; 5(1): 25-28
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1631602838

  8. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review
    Abdulla Al Blooshi, Aisha Al-Shamsi
    JBCGenetics. 2022; 5(1): 29-34
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1645370249



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