E-ISSN 1658-8088 | ISSN 1658-807X
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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
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
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
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
Case report of 49, XXXXY syndrome: first case in Oman
Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai
JBCGenetics. 2020; 3(1): 28-31
» Abstract » doi: 10.24911/JBCGenetics/183-1584426923