E-ISSN 1658-8088 | ISSN 1658-807X
 

JBCGenetics. Year: 2019, Volume: 2, Issue: 1

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

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

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

  6. Original Article
  7. Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1542047633

  8. Review Article
  9. Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
    Ali M AlAsmari, Mohammed M Saleh, Abdul Ali Peer-Zada,
    JBCGenetics. 2019; 2(1): 40-53
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1543842430

  10. Review Article
  11. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.
    Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor
    JBCGenetics. 2019; 2(1): 54-64
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1548325196

  12. Case Report
  13. A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature
    Faroug Ababneh, Marwan Nashabat, Majid Alfadhel
    JBCGenetics. 2019; 2(1): 65-69
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1532439299

  14. Case Report
  15. A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.
    Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi
    JBCGenetics. 2019; 2(1): 70-73
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1547056081

  16. Case Report
  17. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis
    Maha Al Harbi, Fuad Al Mutairi,
    JBCGenetics. 2019; 2(1): 74-76
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1542540902

  18. Case Report
  19. Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.
    Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak
    JBCGenetics. 2019; 2(1): 77-80
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1546931990

  20. Case Report
  21. Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis
    Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli , Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain,
    JBCGenetics. 2019; 2(1): 81-84
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1543238438

  22. Case Report
  23. Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.
    Waleed Altwaijri, Fuad Almalki, Ahmed Al-Rumayyan, Safiyyah Asiri
    JBCGenetics. 2019; 2(1): 85-90
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1541056897



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