Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2019
- Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair
JBCGenetics. 2019; 2(2): 151-155
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542544695
- Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants
Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs
JBCGenetics. 2019; 2(2): 147-150
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1562077620
- Congenital muscular dystrophy a case study with a mutation in the POMT1 gene
Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak
JBCGenetics. 2019; 2(2): 143-146
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1566823566
- Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi
JBCGenetics. 2019; 2(2): 139-142
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1565654717
- Genetics of autism spectrum disorders: a long road to pass
Abdul-Mohsen Alhejaily, Majid Alfadhel
JBCGenetics. 2019; 2(2): 122-138
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1571295180
- Attitudes of geneticists and patients toward incidental findings in Saudi Arabia
Taghrid Aloraini, Alya Abdulrahim, Gulsan A. Karbani
JBCGenetics. 2019; 2(2): 116-121
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1563863536
- 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
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