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
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