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Articles from Journal of Biochemical and Clinical Genetics

  1. Inherited Robertsonian translocation (13;14) in a child with Down's syndrome
    Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur
    JBCGenetics. 2020; 3(2): 113-117
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1592993055

  2. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature
    Zahra Alsahlawi, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, Emtethal Aljishi
    JBCGenetics. 2020; 3(2): 108-112
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1596702951

  3. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31
    Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz
    JBCGenetics. 2020; 3(2): 104-107
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1592502000

  4. Opsismodysplasia and Dilated Cardiomyopathy: a case report
    Muneer Almutairi, Mohammed Almannai
    JBCGenetics. 2020; 3(2): 100-103
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1595951481

  5. Prevention of hemoglobinopathies in Saudi Arabia: efficacy of national premarital screening and the feasibility of preimplantation genetic diagnosis
    Muhammad Umair, Majid Alfadhel
    JBCGenetics. 2020; 3(2): 94-99
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1595487640

  6. Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects
    Antonio Girolami, Elisabetta Cosi, Silvia Ferrari, Claudia Santarossa, Bruno Girolami
    JBCGenetics. 2020; 3(2): 84-93
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1592295836

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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


Pages: 12345

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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.