E-ISSN 1658-8088 | ISSN 1658-807X
 
2023, Vol: 6, Issue: 1
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JBCGenetics. Year: 2022, Volume: 5, Issue: 2

    Editorial

  1. Karyotyping in the era of Genome Sequencing
    Hatem Elghezal
    JBCGenetics. 2022; 5(2): 35-36
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1657624831

    2. Original Article

  2. Genetic impact of non-consanguineous marriages in Saudi Arabia.
    Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
    JBCGenetics. 2022; 5(2): 37-42
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1664872492

    3. Case Report

  3. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing
    Gulhan Gurel, Muhsin Elmas, Basak Gogus
    JBCGenetics. 2022; 5(2): 043-047
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1656681352

  4. NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report
    Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih
    JBCGenetics. 2022; 5(2): 48-52
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1665949143

  5. Phelan-McDermid syndrome: a case report and review of the literature
    Osama Yousef Muthaffar, Anas Saeed Alyazidi
    JBCGenetics. 2022; 5(2): 053-058
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1646057756

    6. Letter to the Editor

  6. Vosoritide: a drug providing a promising avenue for the treatment of short stature in children with achondroplasia
    Amsal Qureshi, Areesha Moiz Alvi
    JBCGenetics. 2022; 5(2): 059-060
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1653668216



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  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
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    JBCGenetics. 2018; 1(1): 2-9
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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
    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
  • 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

  • Case report of 49, XXXXY syndrome: first case in Oman
    Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai
    JBCGenetics. 2020; 3(1): 28-31
    » Abstract » doi: 10.24911/JBCGenetics/183-1584426923

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    About Journal of Biochemical and Clinical Genetics

    The Journal of Biochemical and Clinical Genetics (JBCGenetics) is an international peer-reviewed, open access medical journal. It is the officia ... Read more.



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