E-ISSN 1658-8088 | ISSN 1658-807X
 

JBCGenetics. Year: 2023, Volume: 6

    Original Article
  1. Supplementary testing after negative or inconclusive exome sequencing results
    Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
    JBCGenetics. 2023; 6(1): 1-13
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1659513785

  2. Original Article
  3. Erythropoietin resistance in patients with regular hemodialysis in Sohag university hospital
    Nagwa S. Ahmed, Aida A Mahmoud, Nayel Abd Elhamed Zaki, Amera A. Genedy
    JBCGenetics. 2023; 6(1): 14-21
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1670609060

  4. Original Article
  5. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene
    Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas
    JBCGenetics. 2023; 6(1): 22-28
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1673224261

  6. Original Article
  7. A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A
    Muhammad Bilal, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, Muhammad Umair
    JBCGenetics. 2023; 6(1): 29-35
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1673499250

  8. Original Article
  9. Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance
    Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel
    JBCGenetics. 2023; 6(1): 36-40
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1676870604

  10. Review Article
  11. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region
    Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi
    JBCGenetics. 2023; 6(1): 41-56
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1664963756

  12. Review Article
  13. Genetic advances in skeletal disorders: an overview
    Safdar Abbas, Hammal Khan, Qamre Alam, Arif Mahmood, Muhammad Umair
    JBCGenetics. 2023; 6(1): 57-69
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1672021989

  14. Case Report
  15. Dilated cardiomyopathy associated with NRAP gene: a case series
    Abdellh A. Names, Mohammed A. Tohary, Basel A. Hadad, Abdurahman H. Alhazmi, Hamad M. Alaksham, Hassan M. Gohal, Ghadah M. Gosadi, Ali A. Awaji, Mohammad A. Jareebi
    JBCGenetics. 2023; 6(1): 70-74
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1668575222

  16. Case Report
  17. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
    Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi
    JBCGenetics. 2023; 6(1): 75-79
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1670866871

  18. Case Report
  19. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report
    Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla
    JBCGenetics. 2023; 6(1): 80-84
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1671616459

  20. Case Report
  21. Progressive pseudorheumatoid dysplasia in an Omani family: a case report
    Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi
    JBCGenetics. 2023; 6(1): 85-88
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1675359352



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