2023, Vol: 6, Issue: 2

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JBCGenetics. Year: 2021, Volume: 4, Issue: 1

Original Article

Epidermal growth factor receptor and STAT3 signal through KRAS have mutually opposite effects on CTEN
Saleh AlGhamdi, Salih Ibrahim, Kanwal Balloch, Darryl Jackson, Mohammad Ilyas
JBCGenetics. 2021; 4(1): 1-13
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1594626414

Original Article

Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis
Osama Sayed Daif Allah, Alshimaa Hafez Abdelall, Madeha Mahrous Zakhary, Nagwa S. Ahmed, Asmaa Mohamed Goda
JBCGenetics. 2021; 4(1): 14-21
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1598435875

Original Article

Knowledge and attitudes regarding etiology and genetic counseling among Saudi children with primary congenital glaucoma
Abdulwahab AlThib, Rajiv Khandekar, Deepak Edward
JBCGenetics. 2021; 4(1): 22-26
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1599478278

Original Article

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 » PDF» doi: 10.24911/JBCGenetics/183-1601264923

Original Article

Do we know properly young age breast cancer patients: a double centre study
Hale Onder Yilmaz, Halil Tadkaynatan, Mustafa Gokoglu, Orkun Yilmaz, Gokmen Aktas
JBCGenetics. 2021; 4(1): 35-41
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1606168933

Review Article

The association between IVF and chromosomal abnormalities compared to spontaneous conception
Sawsan Alharthi, Lama Alrasheed, Ghada Alrashed, Ghaida Almutairi, Marwan Nashabat, Majid Alfadhel
JBCGenetics. 2021; 4(1): 42-47
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1597317668

Case Report

A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome
Lamya Ahmad Faisal Alrayes, Mohammed Alotaibi, Afaf Alsagheir
JBCGenetics. 2021; 4(1): 48-50
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1606918375

Case Report

A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population
Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi
JBCGenetics. 2021; 4(1): 51-55
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1603099467

Case Report

Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family
Aisha M. AlShamsi, Qudsia R. Shaukat, Mohammed H. AlKuwaiti
JBCGenetics. 2021; 4(1): 56-63
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1602852756

Case Report

Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation
Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi
JBCGenetics. 2021; 4(1): 64-67
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1600718816

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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