Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2018
- Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel
JBCGenetics. 2018; 1(1): 47-50
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1532438227
- An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 43-46
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1531458597
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1531469195
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530040885
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1529928114
- Use of HPLC-UV method for the analysis of maple syrup urine disease in plasma sample first time in Saudi Arabia
Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain
JBCGenetics. 2018; 1(1): 26-30
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530358447
- Molecular genetics of inherited kidney disease in Saudi Arabia
Mohamed H Al-Hamed, Faiqa Imtiaz, Jameela Kari
JBCGenetics. 2018; 1(1): 19-25
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1529935373
- Syndactyly genes and classification: a mini review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
JBCGenetics. 2018; 1(1): 10-18
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1532177257
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1531548689
- Journal of Biochemical and Clinical Genetics: A Great Step Forward in Genomic Research
Majid Alfadhel
JBCGenetics. 2018; 1(1): 1-1
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1538626720
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