E-ISSN 1658-8088 | ISSN 1658-807X
 
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JBCGenetics

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



    Case Report
  1. A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report
    Aslı Güner Öztürk Demir, Akif Ayaz, Muhsin Elmas
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1726230535
    Published Online : Jan 16, 2025
    Case Report

  2. Original Article
  3. Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study
    Muhammad Umair, Saleh Althenayyan, Raja Hussain Ali
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1734375181
    Published Online : Jan 16, 2025
    Original Article

  4. Case Report
  5. Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study
    Suhaib Mohammad Ali Abunaser, Cigdem Pala Ozturk, Anurita Pais
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1723721178
    Published Online : Jan 12, 2025
    Case Report

  6. Case Report
  7. Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence
    Suhaib Mohammad Ali Abunaser, Anurita Pais, Cigdem Pala Ozturk
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1723713112
    Published Online : Jan 12, 2025
    Case Report

  8. Original Article
  9. A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B
    Zaheer Ahmed, Syed Nasir Abbas Shah, Rimsha Zaid, Abdul Jabbar, Adeel Shahid, Nizam Uddin Baloch, Muhammad Jawad Khan, Muhammad Umair
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1731492813
    Published Online : Dec 31, 2024
    Original Article

  10. Editorial
  11. Gene Therapy for Rare Genetic Disorders: Transformative Progress, Challenges, and Future Prospects
    Muhammad Umair,
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1733834270
    Published Online : Dec 21, 2024
    Editorial

  12. Original Article
  13. Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study
    Emtithal Al Jishi, Zahra Al Sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al Mahroos, Heba Alkoheji
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1722167696
    Published Online : Dec 20, 2024
    Original Article

  14. Original Article
  15. Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi
    Komal Uppal, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1719473976
    Published Online : Dec 18, 2024
    Original Article

  16. Editorial
  17. The Importance and Deficiencies of Medical Treatment Guidelines for Genetic Disorders in the Middle East Region
    Majid Alfadhel
    » Abstract » PDF» doi: 10.24911/JBCGenetics.183-1725031053
    Published Online : Dec 15, 2024
    Editorial



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    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
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    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

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    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
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  • Frontonasal dysplasia: a review
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    JBCGenetics. 2018; 1(2): 66-76
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  • 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,
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  • Syndactyly genes and classification: a mini review
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    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
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  • 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
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    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
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    JBCGenetics. 2018; 1(2): 51-52
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    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]

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    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]