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JBCGenetics. Year: 2020, Volume: 3, Issue: 1

    Editorial

  1. Geomapping genetic diseases in KSA, the opportunity and challenges
    Eissa A. Faqeih
    JBCGenetics. 2020; 3(1): 1-2
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1589128987

    2. Original Research (Original Article)

  2. Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Turkish population
    Muhsin Elmas, Mustafa Solak, Mehmet Yaman, Saliha Handan Yildiz, Mujgan Erdogan, Tulay Koken
    JBCGenetics. 2020; 3(1): 3-6
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1582098144

  3. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain
    Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim
    JBCGenetics. 2020; 3(1): 7-13
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1580808879

    4. Review Article

  4. Prevalence of neurometabolic diseases in Saudi Arabia
    Mohammed Almuqbil
    JBCGenetics. 2020; 3(1): 14-21
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1585310179

    5. Case Report

  5. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1585816398

  6. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1584426923

  7. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)
    Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal
    JBCGenetics. 2020; 3(1): 32-35
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1581434307

  8. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report
    Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman
    JBCGenetics. 2020; 3(1): 36-40
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1580893176

  9. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
    Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez
    JBCGenetics. 2020; 3(1): 41-44
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1579263463

  10. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
    Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi
    JBCGenetics. 2020; 3(1): 45-51
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1585821994