2024, Vol: 7, Issue: 1

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Title Page

JBCGenetics. Year: 2020, Volume: 3, Issue: 2

Editorial

Dual genetic diagnoses - underappreciated "double trouble"
Christian Beetz, Peter Bauer
JBCGenetics. 2020; 3(2): 52-53
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1600154983

Original Article

Genetic and clinical approach to macrocephaly: a 5-year single-center study
Muhsin Elmas, Umit Can Yildirim
JBCGenetics. 2020; 3(2): 54-59
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1594283408

Original Article

Role of religion/spirituality in the context of genetic counseling: health professionals' experiences in an Islamic country
Khadijah Bakur, Jumana Al-Aama, Zuhair Alhassnan, Helen Brooks, Tara Clancy, Saud Takroni, Fiona Ulph
JBCGenetics. 2020; 3(2): 60-70
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1596638212

Original Article

Association of vitamin D receptor gene fok1 polymorphism with bone health in Pakistani population
Najam Farooq, Anwar Ullah, Abida Arshad, Navida Riaz, Jabar Zaman Khan, Sobia Tabassum, Muhammad Arshad Malik
JBCGenetics. 2020; 3(2): 71-76
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1588174375

Review Article

Molecular testing approaches in thyroid cancer diagnosis
Abdul-Mohsen Gaeth AlHejaily, Naji Jamil AlJohani
JBCGenetics. 2020; 3(2): 77-83
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1594975192

Review Article

Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects
Antonio Girolami, Elisabetta Cosi, Silvia Ferrari, Claudia Santarossa, Bruno Girolami
JBCGenetics. 2020; 3(2): 84-93
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1592295836

Review Article

Prevention of hemoglobinopathies in Saudi Arabia: efficacy of national premarital screening and the feasibility of preimplantation genetic diagnosis
Muhammad Umair, Majid Alfadhel
JBCGenetics. 2020; 3(2): 94-99
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1595487640

Case Report

Opsismodysplasia and Dilated Cardiomyopathy: a case report
Muneer Almutairi, Mohammed Almannai
JBCGenetics. 2020; 3(2): 100-103
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1595951481

Case Report

A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz
JBCGenetics. 2020; 3(2): 104-107
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1592502000

Case Report

Infantile systemic hyalinosis: report of a case from Bahrain and review of literature
Zahra Alsahlawi, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, Emtethal Aljishi
JBCGenetics. 2020; 3(2): 108-112
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1596702951

Case Report

Inherited Robertsonian translocation (13;14) in a child with Down Syndrome
Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur
JBCGenetics. 2020; 3(2): 113-117
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1592993055

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

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