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Articles from Journal of Biochemical and Clinical Genetics



  1. Molecular testing approaches in thyroid cancer diagnosis
    Abdul-Mohsen Gaeth AlHejaily, Naji Jamil AlJohani
    JBCGenetics. 2020; 3(2): 77-83
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1594975192

  2. Association of vitamin D receptor gene fok1 polymorphism with bone health in Pakistani population
    Najam Farooq, Anwar Ullah, Abida Arshad, Navida Riaz, Jabar Zaman Khan, Sobia Tabassum, Muhammad Arshad Malik
    JBCGenetics. 2020; 3(2): 71-76
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1588174375

  3. Role of religion/spirituality in the context of genetic counseling: health professionals' experiences in an Islamic country
    Khadijah Bakur, Jumana Al-Aama, Zuhair Alhassnan, Helen Brooks, Tara Clancy, Saud Takroni, Fiona Ulph
    JBCGenetics. 2020; 3(2): 60-70
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1596638212

  4. Genetic and clinical approach to macrocephaly: a 5-year single-center study
    Muhsin Elmas, Umit Can Yildirim
    JBCGenetics. 2020; 3(2): 54-59
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1594283408

  5. Dual genetic diagnoses - underappreciated "double trouble"
    Christian Beetz, Peter Bauer
    JBCGenetics. 2020; 3(2): 52-53
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1600154983

  6. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
    Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi
    JBCGenetics. 2020; 3(1): 45-51
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1585821994

  7. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
    Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez
    JBCGenetics. 2020; 3(1): 41-44
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1579263463

  8. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report
    Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman
    JBCGenetics. 2020; 3(1): 36-40
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1580893176

  9. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)
    Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal
    JBCGenetics. 2020; 3(1): 32-35
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1581434307

  10. Case report of 49, XXXXY syndrome: first case in Oman
    Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai
    JBCGenetics. 2020; 3(1): 28-31
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1584426923

  11. Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1585816398

  12. Prevalence of neurometabolic diseases in Saudi Arabia
    Mohammed Almuqbil
    JBCGenetics. 2020; 3(1): 14-21
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1585310179

  13. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain
    Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim
    JBCGenetics. 2020; 3(1): 7-13
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1580808879

  14. Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Turkish population
    Muhsin Elmas, Mustafa Solak, Mehmet Yaman, Saliha Handan Yildiz, Mujgan Erdogan, Tulay Koken
    JBCGenetics. 2020; 3(1): 3-6
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1582098144

  15. Geomapping genetic diseases in KSA, the opportunity and challenges
    Eissa A. Faqeih
    JBCGenetics. 2020; 3(1): 1-2
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1589128987

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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



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Journal of Biochemical and Clinical Genetics
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
Web Page : jbcgenetics.com/
Frequency : 2 issues per year
Subject : Genetics
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