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Articles from Journal of Biochemical and Clinical Genetics

  1. Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population.
    Fawz Al Harthi, Moeen Al-Sayed, Ahmed Yaqinuddin, Gulsan Abubakar Karbani, Ameera Salem Blobaid, Monika Maya Wahi
    JBCGenetics. 2019; 2(1): 18-27
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1538333316

  2. Collagen-specific chaperone, heat shock protein 47 kDa (HSP47)-pathway and expression patterns in cancer
    Alisha Parveen, Rajesh Kumar, Sukant Khurana, Abhishek Kumar
    JBCGenetics. 2019; 2(1): 3-17
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1554287386

  3. A call for considering biochemical concepts in clinical genetics research
    Peter Bauer, Christian Beetz, Arndt Rolfs
    JBCGenetics. 2019; 2(1): 1-2
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1557963984

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
    Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel
    JBCGenetics. 2018; 1(1): 47-50
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1532438227

  15. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
    Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 43-46
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1531458597

  16. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1531469195

  17. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530040885

  18. Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1529928114

  19. Use of HPLC-UV method for the analysis of maple syrup urine disease in plasma sample first time in Saudi Arabia
    Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain
    JBCGenetics. 2018; 1(1): 26-30
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530358447

  20. Molecular genetics of inherited kidney disease in Saudi Arabia
    Mohamed H Al-Hamed, Faiqa Imtiaz, Jameela Kari
    JBCGenetics. 2018; 1(1): 19-25
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1529935373


Pages: 12345

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Journal of Biochemical and Clinical Genetics
Journal of Biochemical and Clinical Genetics
Publisher : Discover STM Publishing Ltd, Ireland
Title : Journal of Biochemical and Clinical Genetics
Abbreviation : JBCGenetics
p-ISSN : 1658-807X
e-ISSN : 1658-8088
Language(s) : English
Web Page : https://www.jbcgenetics.com/
Frequency : 2 issues per year
Subject : Genetics
Indexing & Abstracting : bibliomed
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The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.