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
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
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
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
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
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
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
