2023, Vol: 6, Issue: 2

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Title Page

JBCGenetics. Year: 2019, Volume: 2, Issue: 1

Editorial

A call for considering biochemical concepts in clinical genetics research
Peter Bauer, Christian Beetz, Arndt Rolfs
JBCGenetics. 2019; 2(1): 1-2
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1557963984

Original Article

Collagen-specific chaperone, heat shock protein 47 kDa (HSP47)-pathway and expression patterns in cancer
Alisha Parveen , Rajesh Kumar, Abhishek Kumar,
JBCGenetics. 2019; 2(1): 3-17
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1554287386

Original Article

Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population.
Fawz AlHarthi , Moeen Al Sayed, Ahmed Yaqinuddin, Gulsan Abubakar Karbani, Ameera Salem Blobaid, Monika Maya Wahi ,
JBCGenetics. 2019; 2(1): 18-27
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1538333316

Original Article

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 » PDF» doi: 10.24911/JBCGenetics/183-1542047633

Review Article

Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
Ali M AlAsmari, Mohammed M Saleh, Abdul Ali Peer-Zada,
JBCGenetics. 2019; 2(1): 40-53
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1543842430

Review Article

Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor
JBCGenetics. 2019; 2(1): 54-64
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1548325196

Case Report

A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature
Faroug Ababneh, Marwan Nashabat, Majid Alfadhel
JBCGenetics. 2019; 2(1): 65-69
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1532439299

Case Report

A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi
JBCGenetics. 2019; 2(1): 70-73
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1547056081

Case Report

Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis
Maha Al Harbi, Fuad Al Mutairi,
JBCGenetics. 2019; 2(1): 74-76
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1542540902

Case Report

Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak
JBCGenetics. 2019; 2(1): 77-80
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1546931990

Case Report

Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli , Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain,
JBCGenetics. 2019; 2(1): 81-84
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1543238438

Case Report

Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.
Waleed Altwaijri, Fuad Almalki, Ahmed Al-Rumayyan, Safiyyah Asiri
JBCGenetics. 2019; 2(1): 85-90
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1541056897

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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Title Owner: Saudi Society of Medical Genetics

https://ssmg.org.sa/en

Society Email: info@ssmg.org.sa

Editor in Chief: dralfadhelm@jbcgenetics.com

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