Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2018
- ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai
JBCGenetics. 2018; 1(2): 98-101
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530603908
- A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman
Musallam Said Al-Araimi, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, Salma Mohammed Al-Harasi
JBCGenetics. 2018; 1(2): 93-97
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1532358706
- Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature
Nourah Alruqaie, Majid Alfadhel
JBCGenetics. 2018; 1(2): 87-92
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1529491124
- Denys-Drash Syndrome: a case report
Ahmed AbuAlreesh, Zuhair A Rahbeeni, Rayah Asiri
JBCGenetics. 2018; 1(2): 84-86
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542382146
- A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene
Muhsin Elmas, Basak Gogus,
JBCGenetics. 2018; 1(2): 81-83
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1541166651
- Dilated cardiomyopathy in a child with truncating mutation in NRAP gene
Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi
JBCGenetics. 2018; 1(2): 77-80
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542267981
- Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1530765389
- Established Type 2 Diabetes-Susceptibility Genetic Variants in Saudi ethnicity: A Mini-Systematic Review
Khalid Siddiqui, Mohthash Musambil, Adnan Mahmood Usmani
JBCGenetics. 2018; 1(2): 57-65
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1540811228
- Dysmorphic features as an early presentation of rare sex chromosome aneuploidies
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali
JBCGenetics. 2018; 1(2): 53-56
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542546893
- Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares,
JBCGenetics. 2018; 1(2): 51-52
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1546945268
- 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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