« Previous Issue

JBCGenetics. Year: 2021, Volume: 4

    Editorial

  1. Variants of uncertain significance is a clinical dilemma
    Majid Alfadhel
    JBCGenetics. 2021; 4(2): 68-69
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1628277210

  2. Original Research (Original Article)

  3. Genetic carrier screening for disorders included in newborn screening in the Saudi population
    Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
    JBCGenetics. 2021; 4(2): 70-75
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1614266028

  4. Effect of vitamin D3 supplementation upon the metabolic and DNA methylation profile of cystic fibrosis patients
    Maria Paula de Paiva, Dayanna Joyce Marques Queiroz, Celso Costa da Silva Junior, Constantino Giovanni Braga Cartaxo, Marina de Castro Coelho, Rafaella Cristhine Luna Pordeus, Rafaela Lira Formiga Cavalcanti de Lima, Darlene Camati Persuhn, Alexandre Sergio Silva, Naila Francis Paulo de Oliveira, Maria da Conceicao Rodrigues Goncalves
    JBCGenetics. 2021; 4(2): 76-84
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1613502878

  5. Knowledge and awareness of genetic diseases among residents of the western region of Saudi Arabia
    Abdulmajeed Fahad Alrefaei, Ahmed B. Ashoor, Ibrahim S. Alzahrani, Ibrahim Y. Tarbiyyah, Muath Alrehily, Rayyan S. Alharbi, Sameer H. Qari
    JBCGenetics. 2021; 4(2): 85-92
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1609181653

  6. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing
    Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari
    JBCGenetics. 2021; 4(2): 93-99
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1603863426

  7. Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia
    Alya Qari, Moeen Al-Sayed, Zuhair Al-Hassnan, Amin Kashmeery
    JBCGenetics. 2021; 4(2): 100-111
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1619687090

  8. Case Report

  9. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause
    Sawsan Abdullah, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 112-114
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1614443590

  10. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report
    Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 115-117
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1612612814

  11. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis
    Rehab Al Jawad, Omhani Malibari
    JBCGenetics. 2021; 4(2): 118-121
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1609604470

  12. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report
    Mohammed Omar Galal, Mohamed Hesham Mashali, Ahmad Zaheer, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 122-125
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1613027889