E-ISSN 1658-8088 | ISSN 1658-807X
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JBCGenetics
Online First Articles are accepted, peer reviewed manuscripts that are not yet assigned to an issue, but are citable using DOI
Case Report- A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report
Aslı Güner Öztürk Demir, Akif Ayaz, Muhsin Elmas
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1726230535
Published Online : Jan 16, 2025
Case Report
Original Article- Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study
Muhammad Umair, Saleh Althenayyan, Raja Hussain Ali
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1734375181
Published Online : Jan 16, 2025
Original Article
Case Report- Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study
Suhaib Mohammad Ali Abunaser, Cigdem Pala Ozturk, Anurita Pais
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1723721178
Published Online : Jan 12, 2025
Case Report
Case Report- Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence
Suhaib Mohammad Ali Abunaser, Anurita Pais, Cigdem Pala Ozturk
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1723713112
Published Online : Jan 12, 2025
Case Report
Original Article- A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B
Zaheer Ahmed, Syed Nasir Abbas Shah, Rimsha Zaid, Abdul Jabbar, Adeel Shahid, Nizam Uddin Baloch, Muhammad Jawad Khan, Muhammad Umair
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1731492813
Published Online : Dec 31, 2024
Original Article
Editorial- Gene Therapy for Rare Genetic Disorders: Transformative Progress, Challenges, and Future Prospects
Muhammad Umair,
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1733834270
Published Online : Dec 21, 2024
Editorial
Original Article- Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study
Emtithal Al Jishi, Zahra Al Sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al Mahroos, Heba Alkoheji
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1722167696
Published Online : Dec 20, 2024
Original Article
Original Article- Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi
Komal Uppal, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1719473976
Published Online : Dec 18, 2024
Original Article
Editorial- The Importance and Deficiencies of Medical Treatment Guidelines for Genetic Disorders in the Middle East Region
Majid Alfadhel
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1725031053
Published Online : Dec 15, 2024
Editorial
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]