Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2018
- ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai JBCGenetics. 2018; 1(2): 98-101 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530603908
- A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman
Musallam Said Al-Araimi, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, Salma Mohammed Al-Harasi JBCGenetics. 2018; 1(2): 93-97 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1532358706
- Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature
Nourah Alruqaie, Majid Alfadhel JBCGenetics. 2018; 1(2): 87-92 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1529491124
- Denys-Drash Syndrome: a case report
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri JBCGenetics. 2018; 1(2): 84-86 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542382146
- A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene
Muhsin Elmas, Basak Gogus, JBCGenetics. 2018; 1(2): 81-83 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1541166651
- Dilated cardiomyopathy in a child with truncating mutation in NRAP gene
Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi JBCGenetics. 2018; 1(2): 77-80 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542267981
- Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad JBCGenetics. 2018; 1(2): 66-76 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530765389
- Established Type 2 Diabetes-Susceptibility Genetic Variants in Saudi ethnicity: A Mini-Systematic Review
Khalid Siddiqui, Mohthash Musambil, Adnan Mahmood Usmani JBCGenetics. 2018; 1(2): 57-65 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1540811228
- Dysmorphic features as an early presentation of rare sex chromosome aneuploidies
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali JBCGenetics. 2018; 1(2): 53-56 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542546893
- Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares, JBCGenetics. 2018; 1(2): 51-52 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1546945268
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