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JBCGenetics. Year: 2019, Volume: 2, Issue: 2

    Editorial

  1. Precision genetics for precision medicine in epilepsy: toward optimizing treatment
    Brahim Tabarki
    JBCGenetics. 2019; 2(2): 91-92
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1577170217

  2. Original Research (Original Article)

  3. Analysis of tricarboxylic acid cycle intermediates in dried blood spots by ultraperformance liquid chromatography-tandem mass spectrometry
    Lamia Alhammadi, Maitha Aal Abdulla, Naila Ahli, Nahid Al Dhahouri , Anas Al Aidaros, Fatma Al-Jasmi, Osama Y. Al-Dirbashi
    JBCGenetics. 2019; 2(2): 93-98
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1563341940

  4. Attitudes to prenatal diagnosis and termination of pregnancy for fetal abnormalities in Saudi couples: a single center experience
    Maha Alshalan, Majid Alfadhel
    JBCGenetics. 2019; 2(2): 99-106
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1574152719

  5. Knowledge and attitude of physicians, cancer patients, and the public concerning cancer-related genetic tests in Saudi Arabia
    Lamia Alsubaie, Abdulrahman Alswaid, Omnia Abdulaty, Ahmed Alfares, Sara Gilvary
    JBCGenetics. 2019; 2(2): 107-115
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1562670273

  6. Attitudes of geneticists and patients toward incidental findings in Saudi Arabia
    Taghrid Aloraini, Alya Abdulrahim, Gulsan A. Karbani
    JBCGenetics. 2019; 2(2): 116-121
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1563863536

  7. Review Article

  8. Genetics of autism spectrum disorders: a long road to pass
    Abdul-Mohsen Alhejaily, Majid Alfadhel
    JBCGenetics. 2019; 2(2): 122-138
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1571295180

  9. Case Report

  10. Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia
    Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi
    JBCGenetics. 2019; 2(2): 139-142
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1565654717

  11. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene
    Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak
    JBCGenetics. 2019; 2(2): 143-146
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1566823566

  12. Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants
    Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs
    JBCGenetics. 2019; 2(2): 147-150
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1562077620

  13. Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
    Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair
    JBCGenetics. 2019; 2(2): 151-155
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1542544695