2023, Vol: 6, Issue: 2

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Title Page

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

Editorial

Precision genetics for precision medicine in epilepsy: toward optimizing treatment
Brahim Tabarki
JBCGenetics. 2019; 2(2): 91-92
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1577170217

Original Article

Analysis of tricarboxylic acid cycle intermediates in dried blood spots by ultraperformance liquid chromatography-tandem mass spectrometry
Lamia Alhammadi, Maitha Aal Abdulla, Naila Ahli, Nahid Al Dhahouri , Anas Al Aidaros, Fatma Al-Jasmi, Osama Y. Al-Dirbashi
JBCGenetics. 2019; 2(2): 93-98
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1563341940

Original Article

Attitudes to prenatal diagnosis and termination of pregnancy for fetal abnormalities in Saudi couples: a single center experience
Maha Alshalan, Majid Alfadhel
JBCGenetics. 2019; 2(2): 99-106
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1574152719

Original Article

Knowledge and attitude of physicians, cancer patients, and the public concerning cancer-related genetic tests in Saudi Arabia
Lamia Alsubaie, Abdulrahman Alswaid, Omnia Abdulaty, Ahmed Alfares, Sara Gilvary
JBCGenetics. 2019; 2(2): 107-115
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1562670273

Original Article

Attitudes of geneticists and patients toward incidental findings in Saudi Arabia
Taghrid Aloraini, Alya Abdulrahim, Gulsan A. Karbani
JBCGenetics. 2019; 2(2): 116-121
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1563863536

Review Article

Genetics of autism spectrum disorders: a long road to pass
Abdul-Mohsen Alhejaily, Majid Alfadhel
JBCGenetics. 2019; 2(2): 122-138
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1571295180

Case Report

Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi
JBCGenetics. 2019; 2(2): 139-142
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1565654717

Case Report

Congenital muscular dystrophy a case study with a mutation in the POMT1 gene
Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak
JBCGenetics. 2019; 2(2): 143-146
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1566823566

Case Report

Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants
Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs
JBCGenetics. 2019; 2(2): 147-150
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1562077620

Case Report

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair
JBCGenetics. 2019; 2(2): 151-155
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1542544695

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

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Editor in Chief: dralfadhelm@jbcgenetics.com

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