Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2020
- Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi
JBCGenetics. 2020; 3(1): 45-51
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1585821994
- Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez
JBCGenetics. 2020; 3(1): 41-44
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1579263463
- A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report
Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman
JBCGenetics. 2020; 3(1): 36-40
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1580893176
- Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)
Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal
JBCGenetics. 2020; 3(1): 32-35
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1581434307
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1584426923
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1585816398
- Prevalence of neurometabolic diseases in Saudi Arabia
Mohammed Almuqbil
JBCGenetics. 2020; 3(1): 14-21
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1585310179
- Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim
JBCGenetics. 2020; 3(1): 7-13
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1580808879
- Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Turkish population
Muhsin Elmas, Mustafa Solak, Mehmet Yaman, Saliha Handan Yildiz, Mujgan Erdogan, Tulay Koken
JBCGenetics. 2020; 3(1): 3-6
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1582098144
- Geomapping genetic diseases in KSA, the opportunity and challenges
Eissa A. Faqeih
JBCGenetics. 2020; 3(1): 1-2
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1589128987
Pages: 1 |
|
|
