E-ISSN 1658-8088 | ISSN 1658-807X
 
2023, Vol: 6, Issue: 2
6 / 2Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles
Required files to be uploaded

Title Page

JBCGenetics. Year: 2023, Volume: 6, Issue: 1

    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
  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. Original Article
  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. Original Article
  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. Original Article
  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. Review Article
  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. Case Report
  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. Case Report
  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. Case Report
  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



Most Viewed Articles
Most Accessed Articles

  • 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

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • 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 » 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
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • 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

    •
    Most Downloaded
    Top Downloaded Articles

  • 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

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

    •
    Most Cited Articles
    Most Cited Articles

  • 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
    Cited : 4 times [Click to see citing articles]

  • 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
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]

    •

    About Journal of Biochemical and Clinical Genetics

    The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner:  Saudi Society of Medical ... Read more.



    For best results, please use Internet Explorer or Google Chrome.

    Contact Information

    Title Owner: Saudi Society of Medical Genetics

    https://ssmg.org.sa/en

    Society Email: info@ssmg.org.sa

    Editor in Chief: dralfadhelm@jbcgenetics.com

    Contact the publisher:

    contact@discoverpublish.com
    https://discoverpublish.com/ 

    Publisher: Discover STM Publishing Ltd, 

    82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

    Hours:  M-F: 8:30am - 5:30pm

    Contact Emails:

    Journal Editorial Office:  contact@jbcgenetics.com

    Billing Support:  contact@discoverpublish.com

    Technical Support:
    anastasiia.pavlenco@sofiafields.com
    https://sofiafields.com/ 
    POLICIES & JOURNAL LINKS
    Author Login
    Reviewer Login
    About Publisher
    Advertising Policy
    Author's Rights and Obligations
    Conflict of Interest Policy
    Copyright Information
    Digital Archiving & Preservation Policies
    Editorial Policies
    Peer Review Policy
    Editorial & Peer Review Process
    License Information
    Open Access Policy
    Plagiarism Policy
    Privacy Policy
    Protection of Research Participants (Statement On Human And Animal Rights)
    Publication Ethics and Publication Malpractice Statement
    Corrections, Retractions & Expressions of Concern
    Self-Archiving Policies
    Statement of Informed Consent
    Terms of Use