E-ISSN 1658-8088 | ISSN 1658-807X
JBCGenetics. Year: 2023, Volume: 6 Original Article
- Supplementary testing after negative or inconclusive exome sequencing results
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
JBCGenetics. 2023; 6(1): 1-13
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1659513785
- Erythropoietin resistance in patients with regular hemodialysis in Sohag university hospital
Nagwa S. Ahmed, Aida A Mahmoud, Nayel Abd Elhamed Zaki, Amera A. Genedy
JBCGenetics. 2023; 6(1): 14-21
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1670609060
- Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene
Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas
JBCGenetics. 2023; 6(1): 22-28
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1673224261
- A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A
Muhammad Bilal, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, Muhammad Umair
JBCGenetics. 2023; 6(1): 29-35
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1673499250
- Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance
Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel
JBCGenetics. 2023; 6(1): 36-40
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1676870604
Review Article
- The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi
JBCGenetics. 2023; 6(1): 41-56
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1664963756
- Genetic advances in skeletal disorders: an overview
Safdar Abbas, Hammal Khan, Qamre Alam, Arif Mahmood, Muhammad Umair
JBCGenetics. 2023; 6(1): 57-69
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1672021989
Case Report
- Dilated cardiomyopathy associated with NRAP gene: a case series
Abdellh A. Names, Mohammed A. Tohary, Basel A. Hadad, Abdurahman H. Alhazmi, Hamad M. Alaksham, Hassan M. Gohal, Ghadah M. Gosadi, Ali A. Awaji, Mohammad A. Jareebi
JBCGenetics. 2023; 6(1): 70-74
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1668575222
- Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi
JBCGenetics. 2023; 6(1): 75-79
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1670866871
- Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report
Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla
JBCGenetics. 2023; 6(1): 80-84
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1671616459
- Progressive pseudorheumatoid dysplasia in an Omani family: a case report
Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi
JBCGenetics. 2023; 6(1): 85-88
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1675359352
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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
Most Downloaded
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