2024, Vol: 7, Issue: 1

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JBCGenetics. Year: 2024, Volume: 7

Original Article

Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia
Hussain H. Al Saeed , Fahad Alabbas, Ghaleb Elyamany, Abdulrahman Alshehri, Ahmed M. Al-Suliman, Ohoud F. kashari, Anees Malik, Binyam Usman, Maha Sallam, Insherah Barnawi, Ibrahim S. Ghita, Hassan Masmali, Ayman Alhejazi
JBCGenetics. 2024; 7(1): 001-009
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1680730821

Original Article

Kohlschütter–Tönz syndrome: clinical and genetic insight on patients with ROGDI variant
Osama Y. Muthaffar, Lina M. Abdulrahman, Anas S. Alyazidi, Taif K Alotibi
JBCGenetics. 2024; 7(1): 010-018
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1709130779

Original Article

IHH gene variants in North Indian individuals with brachydactyly A1
Shalini Dhiman, Inusha Panigrahi, Shifali Gupta, Harvinder Kaur
JBCGenetics. 2024; 7(1): 019-027
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1717051282

Case Report

Atypical down syndrome features with an atypical chromosomal rearrangement: a case report
Hiba Abu Khalil, Mohammed Almannai, Mohammed Albalwi, Wafaa Eyaid
JBCGenetics. 2024; 7(1): 28-30
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1677356499

Case Report

Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study
Shweta Mahalingam, Rashmi Rasalkar, Meenakshi Lallar, Avinash Pradhan, Sneha Khairnar, Angela Devanboo, Eswarachari Venkataswamy, Satish Kariyaiah, Vedam L. Ramprasad, Priya Kadam
JBCGenetics. 2024; 7(1): 031-037
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1708424799

Case Report

Polyendocrinopathy, deafness and albinism, a new combination syndrome
Isaq A. AlMughaizel, Abdulhameed A. Al-Bunyan, Yassin M. Al-saleh, Eman S. AlMoosa, Manal M. Al-Shawi, Yaqoub Y. AlMousa, Fatimah M. AlJishi
JBCGenetics. 2024; 7(1): 038-047
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1710231952

Case Report

Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report
Ankur Jindal, Komal Uppal, Sunil Kumar Polipalli, Seema Kapoor
JBCGenetics. 2024; 7(1): 048-053
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1717853866

Case Report

Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases
Hajira Karim, Lima Oria, Muhsin Elmas
JBCGenetics. 2024; 7(1): 054-058
» Abstract » PDF» doi: 10.24911/JBCGenetics.183-1718405078

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

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]

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]

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.

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