2023, Vol: 6, Issue: 2

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Title Page

JBCGenetics. Year: 2021, Volume: 4, Issue: 2

Editorial

Variants of uncertain significance is a clinical dilemma
Majid Alfadhel
JBCGenetics. 2021; 4(2): 68-69
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1628277210

Original Article

Genetic carrier screening for disorders included in newborn screening in the Saudi population
Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
JBCGenetics. 2021; 4(2): 70-75
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1614266028

Original Article

Effect of vitamin D3 supplementation upon the metabolic and DNA methylation profile of cystic fibrosis patients
Maria Paula de Paiva, Dayanna Joyce Marques Queiroz, Celso Costa da Silva Junior, Constantino Giovanni Braga Cartaxo, Marina de Castro Coelho, Rafaella Cristhine Luna Pordeus, Rafaela Lira Formiga Cavalcanti de Lima, Darlene Camati Persuhn, Alexandre Sergio Silva, Naila Francis Paulo de Oliveira, Maria da Conceicao Rodrigues Goncalves
JBCGenetics. 2021; 4(2): 76-84
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1613502878

Original Article

Knowledge and awareness of genetic diseases among residents of the western region of Saudi Arabia
Abdulmajeed Fahad Alrefaei, Ahmed B. Ashoor, Ibrahim S. Alzahrani, Ibrahim Y. Tarbiyyah, Muath Alrehily, Rayyan S. Alharbi, Sameer H. Qari
JBCGenetics. 2021; 4(2): 85-92
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1609181653

Original Article

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing
Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari
JBCGenetics. 2021; 4(2): 93-99
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1603863426

Original Article

Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia
Alya Qari, Moeen Al-Sayed, Zuhair Al-Hassnan, Amin Kashmeery
JBCGenetics. 2021; 4(2): 100-111
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1619687090

Case Report

Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause
Sawsan Abdullah, Zuhair Rahbeeni
JBCGenetics. 2021; 4(2): 112-114
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1614443590

Case Report

Saudi patient with peroxisome biogenesis disorder with novel variant: a case report
Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni
JBCGenetics. 2021; 4(2): 115-117
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1612612814

Case Report

Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis
Rehab Al Jawad, Omhani Malibari
JBCGenetics. 2021; 4(2): 118-121
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1609604470

Case Report

Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report
Mohammed Omar Galal, Mohamed Hesham Mashali, Ahmad Zaheer, Zuhair Rahbeeni
JBCGenetics. 2021; 4(2): 122-125
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1613027889

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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