Articles from Journal of Biochemical and Clinical Genetics
- Knowledge and attitude of physicians, cancer patients, and the public concerning cancer-related genetic tests in Saudi Arabia
Lamia Alsubaie, Abdulrahman Alswaid, Omnia Abdulaty, Ahmed Alfares, Sara Gilvary
JBCGenetics. 2019; 2(2): 107-115
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1562670273
- Attitudes to prenatal diagnosis and termination of pregnancy for fetal abnormalities in Saudi couples: a single center experience
Maha Alshalan, Majid Alfadhel
JBCGenetics. 2019; 2(2): 99-106
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1574152719
- Analysis of tricarboxylic acid cycle intermediates in dried blood spots by ultraperformance liquid chromatography-tandem mass spectrometry
Lamia Alhammadi, Maitha Aal Abdulla, Naila Ahli, Nahid Al Dhahouri , Anas Al Aidaros, Fatma Al-Jasmi, Osama Y. Al-Dirbashi
JBCGenetics. 2019; 2(2): 93-98
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1563341940
- Precision genetics for precision medicine in epilepsy: toward optimizing treatment
Brahim Tabarki
JBCGenetics. 2019; 2(2): 91-92
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1577170217
- Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.
Waleed Altwaijri, Fuad Almalki, Ahmed Al-Rumayyan, Safiyyah Asiri
JBCGenetics. 2019; 2(1): 85-90
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1541056897
- Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli , Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain,
JBCGenetics. 2019; 2(1): 81-84
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1543238438
- Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.
Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak
JBCGenetics. 2019; 2(1): 77-80
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1546931990
- Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis
Maha Al Harbi, Fuad Al Mutairi,
JBCGenetics. 2019; 2(1): 74-76
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542540902
- A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi
JBCGenetics. 2019; 2(1): 70-73
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1547056081
- A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature
Faroug Ababneh, Marwan Nashabat, Majid Alfadhel
JBCGenetics. 2019; 2(1): 65-69
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1532439299
- Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor
JBCGenetics. 2019; 2(1): 54-64
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1548325196
- Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
Ali M AlAsmari, Mohammed M Saleh, Abdul Ali Peer-Zada,
JBCGenetics. 2019; 2(1): 40-53
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1543842430
- 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 » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542047633
- Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population.
Fawz AlHarthi , Moeen Al Sayed, Ahmed Yaqinuddin, Gulsan Abubakar Karbani, Ameera Salem Blobaid, Monika Maya Wahi ,
JBCGenetics. 2019; 2(1): 18-27
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1538333316
- Collagen-specific chaperone, heat shock protein 47 kDa (HSP47)-pathway and expression patterns in cancer
Alisha Parveen , Rajesh Kumar, Abhishek Kumar,
JBCGenetics. 2019; 2(1): 3-17
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1554287386
- A call for considering biochemical concepts in clinical genetics research
Peter Bauer, Christian Beetz, Arndt Rolfs
JBCGenetics. 2019; 2(1): 1-2
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1557963984
- 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
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| Journal of Biochemical and Clinical Genetics | | Publisher : | Saudi Society of Medical Genetics | | Title : | Journal of Biochemical and Clinical Genetics | | Abbreviation : | JBCGenetics | | p-ISSN : | 1658-807X | | e-ISSN : | 1658-8088 | | Language(s) : | English | | Frequency : | 2 issues per year | | Subject : | Genetics | | List Articles from Journal of Biochemical and Clinical Genetics |
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