E-ISSN 1658-8088 | ISSN 1658-807X
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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
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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
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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
Case report of 49, XXXXY syndrome: first case in Oman
Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai
JBCGenetics. 2020; 3(1): 28-31
» Abstract » doi: 10.24911/JBCGenetics/183-1584426923