E-ISSN 1658-8088 | ISSN 1658-807X
JBCGenetics. Year: 2018, Volume: 1, Issue: 2 Editorial- Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares,
JBCGenetics. 2018; 1(2): 51-52
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1546945268
Original Article- Dysmorphic features as an early presentation of rare sex chromosome aneuploidies
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali
JBCGenetics. 2018; 1(2): 53-56
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1542546893
Review Article- Established Type 2 Diabetes-Susceptibility Genetic Variants in Saudi ethnicity: A Mini-Systematic Review
Khalid Siddiqui, Mohthash Musambil, Adnan Mahmood Usmani
JBCGenetics. 2018; 1(2): 57-65
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1540811228
Review Article- Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1530765389
Case Report- Dilated cardiomyopathy in a child with truncating mutation in NRAP gene
Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi
JBCGenetics. 2018; 1(2): 77-80
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1542267981
Case Report- A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene
Muhsin Elmas, Basak Gogus,
JBCGenetics. 2018; 1(2): 81-83
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1541166651
Case Report- Denys-Drash Syndrome: a case report
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri
JBCGenetics. 2018; 1(2): 84-86
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1542382146
Case Report- Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature
Nourah Alruqaie, Majid Alfadhel
JBCGenetics. 2018; 1(2): 87-92
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1529491124
Case Report- A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman
Musallam Said Al-Araimi, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, Salma Mohammed Al-Harasi
JBCGenetics. 2018; 1(2): 93-97
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1532358706
Case Report- ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai
JBCGenetics. 2018; 1(2): 98-101
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1530603908
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]