JBCGenetics. Online First

Online First Articles are accepted, peer reviewed manuscripts that are not yet assigned to an issue, but are citable using DOI

  1. Vosoritide: a drug providing a promising avenue for the treatment of short stature in children with Achondroplasia
    Amsal Qureshi, Areesha Moiz Alvi
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1653668216
    Published Online : Nov 05, 2022
    Letter to the Editor

  2. Phelan-McDermid Syndrome: a case report and review of literature
    Osama Yousef Muthaffar, Anas Saeed Alyazidi
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1646057756
    Published Online : Aug 16, 2022
    Case Report

  3. 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
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1630496130
    Published Online : Aug 08, 2022
    Case Report

  4. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.
    Abdulla Alblooshi, Aisha Al-Shamsi
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1645370249
    Published Online : Jun 30, 2022
    Case Report

  5. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism
    Khloud M Al Rubaya, Faten F AlMijmaj, Talal AlAnzi, Abdullah A Aljasser
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1631602838
    Published Online : May 30, 2022
    Case Report

  6. 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
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1647436069
    Published Online : May 12, 2022
    Original Research (Original Article)