E-ISSN 1658-8088 | ISSN 1658-807X
 
2023, Vol: 6, Issue: 1
6 / 1Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles
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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. 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

  3. 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

  4. 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

  5. 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

    6. Review Article

  6. 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

  7. 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

    8. Case Report

  8. 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

  9. 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

  10. 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

  11. 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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    JBCGenetics. 2018; 1(2): 66-76
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  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
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    JBCGenetics. 2018; 1(1): 2-9
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  • Clinical reassessment of post-laboratory variant call format (VCF) files
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    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • 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
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    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

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    Most Downloaded
  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • 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 » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • 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 » doi: 10.24911/JBCGenetics/183-1531469195

  • Case report of 49, XXXXY syndrome: first case in Oman
    Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai
    JBCGenetics. 2020; 3(1): 28-31
    » Abstract » doi: 10.24911/JBCGenetics/183-1584426923

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    Most Cited Articles

    About Journal of Biochemical and Clinical Genetics

    The Journal of Biochemical and Clinical Genetics (JBCGenetics) is an international peer-reviewed, open access medical journal. It is the officia ... Read more.



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