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Articles from Journal of Biochemical and Clinical Genetics

Articles published in 2018



  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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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Journal of Biochemical and Clinical Genetics
Journal of Biochemical and Clinical Genetics
Publisher : Saudi Society of Medical Genetics
Title : Journal of Biochemical and Clinical Genetics
Abbreviation : JBCGenetics
p-ISSN : 1658-807X
e-ISSN : 1658-8088
Language(s) : English
Web Page : jbcgenetics.com/
Frequency : 2 issues per year
Subject : Genetics
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The articles in Bibliomed are open access articles licensed under Creative Commons Attribution 4.0 International License (CC BY), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.