E-ISSN 1658-8088 | ISSN 1658-807X
 

JBCGenetics. Year: 2023, Volume: 6, Issue: 2

    Editorial
  1. Artificial Intelligence in Genomic Analysis: Revolutionizing Healthcare
    Majid Alfadhel
    JBCGenetics. 2023; 6(2): 089-090
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1709450443

  2. Original Article
  3. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly
    Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair
    JBCGenetics. 2023; 6(2): 091-096
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1672678766

  4. Original Article
  5. Construction and validation of an immunity-related prognostic signature for lung squamous cell carcinoma
    Qing Yue, Wei Han, Ziling Liu, Zain Abbas, Akmal Zubair, Saba Beigh, Hayaa Mohammad Alhuthali, Hind A. Alzahrani, Rasha Mohammed Saleem, Nahed S. Alharthi
    JBCGenetics. 2023; 6(2): 097-105
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1674209873

  6. Review Article
  7. Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review
    Mujahid Khan, Muhammad Umair
    JBCGenetics. 2023; 6(2): 106-118
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1696867179

  8. Review Article
  9. Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association
    Basamat AlMoallem
    JBCGenetics. 2023; 6(2): 119-128
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1695642812

  10. Case Report
  11. Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy
    Najla Binsabbar, Sadia Tabassum
    JBCGenetics. 2023; 6(2): 129-132
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1698921213

  12. Case Report
  13. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.
    Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi
    JBCGenetics. 2023; 6(2): 133-137
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1696016763

  14. Case Report
  15. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report
    Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan
    JBCGenetics. 2023; 6(2): 138-143
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1690703389

  16. Case Report
  17. Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma
    Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora
    JBCGenetics. 2023; 6(2): 144-148
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1677940397

  18. Case Report
  19. A case of Ellis-van Creveld syndrome in Palestine
    Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh
    JBCGenetics. 2023; 6(2): 149-152
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1675543817

  20. Case Report
  21. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.
    Ines Ben Abdallah Bouhjar, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, Hatem Elghezal
    JBCGenetics. 2023; 6(2): 153-158
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1672039791



Most Viewed Articles
Most Accessed Articles

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

  • 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 » doi: 10.24911/JBCGenetics/183-1531548689

  • 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 » doi: 10.24911/JBCGenetics/183-1529928114

  • 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 » doi: 10.24911/JBCGenetics/183-1530040885

  • 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 » doi: 10.24911/JBCGenetics/183-1531469195

  • Most Downloaded
    Top Downloaded Articles

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

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

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

  • 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 » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

  • Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]