Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2022
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1653668216
- Phelan-McDermid syndrome: a case report and review of the literature
Osama Yousef Muthaffar, Anas Saeed Alyazidi
JBCGenetics. 2022; 5(2): 053-058
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1646057756
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1665949143
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1656681352
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1664872492
- Karyotyping in the era of Genome Sequencing
Hatem Elghezal
JBCGenetics. 2022; 5(2): 35-36
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1657624831
- A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review
Abdulla Al Blooshi, Aisha Al-Shamsi
JBCGenetics. 2022; 5(1): 29-34
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1645370249
- A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser
JBCGenetics. 2022; 5(1): 25-28
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1631602838
- A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia
Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan
JBCGenetics. 2022; 5(1): 20-24
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1630496130
- Tyrosinemia type I: an unusual case presentation
Marwa ALMahroos, Mohammed AlMannai
JBCGenetics. 2022; 5(1): 17-19
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1624791068
- Genetic landscape of epilepsies in Kingdom of Saudi Arabia: a brief review
Waleed Altwaijri
JBCGenetics. 2022; 5(1): 12-16
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1628079617
- Assessing the knowledge and awareness of the Taif community about genetic diseases
Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti
JBCGenetics. 2022; 5(1): 1-11
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1647436069
Pages: 1 |
|
|
