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

    Editorial

  1. Journal of Biochemical and Clinical Genetics: A Great Step Forward in Genomic Research
    Majid Alfadhel
    JBCGenetics. 2018; 1(1): 1-1
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1538626720

  2. Review Article

  3. The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1531548689

  4. Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1532177257

  5. Molecular genetics of inherited kidney disease in Saudi Arabia
    Mohamed H Al-Hamed, Faiqa Imtiaz, Jameela Kari
    JBCGenetics. 2018; 1(1): 19-25
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1529935373

  6. Original Research (Original Article)

  7. Use of HPLC-UV method for the analysis of maple syrup urine disease in plasma sample first time in Saudi Arabia
    Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain
    JBCGenetics. 2018; 1(1): 26-30
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1530358447

  8. Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1529928114

  9. Case Report

  10. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1530040885

  11. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1531469195

  12. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
    Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 43-46
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1531458597

  13. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
    Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel
    JBCGenetics. 2018; 1(1): 47-50
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1532438227