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Articles from Journal of Biochemical and Clinical Genetics
Articles published in 2019


  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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 Ahmed Asiri
    JBCGenetics. 2019; 2(1): 85-90
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1541056897

  12. 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

  13. 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

  14. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis
    Maha Al-Harbi, Abdulrahman Al-Amir, Abdullah T. Al-Qahtani, Fuad Al-Mutairi
    JBCGenetics. 2019; 2(1): 74-76
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542540902

  15. 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 A.O. Elamin, Paula Rendeiro, Suha Tashkandi
    JBCGenetics. 2019; 2(1): 70-73
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1547056081

  16. 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

  17. 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

  18. Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
    Ali M. AlAsmari, Mohammed M. Saleh, Abdul A. Peer Zada
    JBCGenetics. 2019; 2(1): 40-53
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1543842430

  19. 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 G.V. Martini
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542047633

  20. Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population.
    Fawz Al Harthi, 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


Pages: 12

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Journal of Biochemical and Clinical Genetics
Journal of Biochemical and Clinical Genetics
Publisher : Discover STM Publishing Ltd, Ireland
Title : Journal of Biochemical and Clinical Genetics
Abbreviation : JBCGenetics
p-ISSN : 1658-807X
e-ISSN : 1658-8088
Language(s) : English
Web Page : https://www.jbcgenetics.com/
Frequency : 2 issues per year
Subject : Genetics
Indexing & Abstracting : bibliomed
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The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
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