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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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1557963984

  2. Original Research (Original Article)

  3. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1554287386

  4. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1538333316

  5. 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 G.V. Martini
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1542047633

  6. Review Article

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

  8. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1548325196

  9. Case Report

  10. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1532439299

  11. 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 A.O. Elamin, Paula Rendeiro, Suha Tashkandi
    JBCGenetics. 2019; 2(1): 70-73
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1547056081

  12. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis
    Maha Al-Harbi, Abdulrahman Al-Amir, Abdullah T. Al-Qahtani, Fuad Al-Mutairi
    JBCGenetics. 2019; 2(1): 74-76
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1542540902

  13. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1546931990

  14. 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 » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1543238438

  15. 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 Ahmed Asiri
    JBCGenetics. 2019; 2(1): 85-90
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1541056897