2023, Vol: 6, Issue: 2

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JBCGenetics. Year: 2023, Volume: 6

Editorial

Artificial Intelligence in Genomic Analysis: Revolutionizing Healthcare
Majid Alfadhel
JBCGenetics. 2023; 6(2): 089-090
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1709450443

Original Article

Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly
Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair
JBCGenetics. 2023; 6(2): 091-096
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1672678766

Original Article

Construction and validation of an immunity-related prognostic signature for lung squamous cell carcinoma
Qing Yue, Wei Han, Ziling Liu, Zain Abbas, Akmal Zubair, Saba Beigh, Hayaa Mohammad Alhuthali, Hind A. Alzahrani, Rasha Mohammed Saleem, Nahed S. Alharthi
JBCGenetics. 2023; 6(2): 097-105
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1674209873

Review Article

Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review
Mujahid Khan, Muhammad Umair
JBCGenetics. 2023; 6(2): 106-118
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1696867179

Review Article

Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association
Basamat AlMoallem
JBCGenetics. 2023; 6(2): 119-128
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1695642812

Case Report

Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy
Najla Binsabbar, Sadia Tabassum
JBCGenetics. 2023; 6(2): 129-132
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1698921213

Case Report

WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.
Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi
JBCGenetics. 2023; 6(2): 133-137
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1696016763

Case Report

A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan
JBCGenetics. 2023; 6(2): 138-143
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1690703389

Case Report

Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma
Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora
JBCGenetics. 2023; 6(2): 144-148
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1677940397

Case Report

A case of Ellis-van Creveld syndrome in Palestine
Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh
JBCGenetics. 2023; 6(2): 149-152
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1675543817

Case Report

Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.
Ines Ben Abdallah Bouhjar, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, Hatem Elghezal
JBCGenetics. 2023; 6(2): 153-158
» Abstract » HTML Fulltext » PDF» doi: 10.24911/JBCGenetics/183-1672039791

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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