2024, Vol: 7, Issue: 1

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JBCGenetics. Year: 2022, Volume: 5, Issue: 1

Original Article

Assessing the knowledge and awareness of the Taif community about genetic diseases
Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti
JBCGenetics. 2022; 5(1): 1-11
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1647436069

Review Article

Genetic landscape of epilepsies in Kingdom of Saudi Arabia: a brief review
Waleed Altwaijri
JBCGenetics. 2022; 5(1): 12-16
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1628079617

Case Report

Tyrosinemia type I: an unusual case presentation
Marwa ALMahroos, Mohammed AlMannai
JBCGenetics. 2022; 5(1): 17-19
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1624791068

Case Report

A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia
Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan
JBCGenetics. 2022; 5(1): 20-24
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1630496130

Case Report

A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser
JBCGenetics. 2022; 5(1): 25-28
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1631602838

Case Report

A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review
Abdulla Al Blooshi, Aisha Al-Shamsi
JBCGenetics. 2022; 5(1): 29-34
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1645370249

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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