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Articles from Journal of Biochemical and Clinical Genetics



  1. Tyrosinemia type I: an unusual case presentation
    Marwa ALMahroos, Mohammed AlMannai
    JBCGenetics. 2022; 5(1): 06-08
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1624791068

  2. Genetic landscape of epilepsies in Kingdom of Saudi Arabia: a brief review
    Waleed Altwaijri
    JBCGenetics. 2022; 5(1): 01-05
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1628079617

  3. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report
    Mohammed Omar Galal, Mohamed Hesham Mashali, Ahmad Zaheer, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 122-125
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1613027889

  4. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis
    Rehab Al Jawad, Omhani Malibari
    JBCGenetics. 2021; 4(2): 118-121
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1609604470

  5. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report
    Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 115-117
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1612612814

  6. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause
    Sawsan Abdullah, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 112-114
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1614443590

  7. Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia
    Alya Qari, Moeen Al-Sayed, Zuhair Al-Hassnan, Amin Kashmeery
    JBCGenetics. 2021; 4(2): 100-111
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1619687090

  8. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing
    Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari
    JBCGenetics. 2021; 4(2): 93-99
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1603863426

  9. Knowledge and awareness of genetic diseases among residents of the western region of Saudi Arabia
    Abdulmajeed Fahad Alrefaei, Ahmed B. Ashoor, Ibrahim S. Alzahrani, Ibrahim Y. Tarbiyyah, Muath Alrehily, Rayyan S. Alharbi, Sameer H. Qari
    JBCGenetics. 2021; 4(2): 85-92
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1609181653

  10. Effect of vitamin D3 supplementation upon the metabolic and DNA methylation profile of cystic fibrosis patients
    Maria Paula de Paiva, Dayanna Joyce Marques Queiroz, Celso Costa da Silva Junior, Constantino Giovanni Braga Cartaxo, Marina de Castro Coelho, Rafaella Cristhine Luna Pordeus, Rafaela Lira Formiga Cavalcanti de Lima, Darlene Camati Persuhn, Alexandre Sergio Silva, Naila Francis Paulo de Oliveira, Maria da Conceicao Rodrigues Goncalves
    JBCGenetics. 2021; 4(2): 76-84
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1613502878

  11. Genetic carrier screening for disorders included in newborn screening in the Saudi population
    Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
    JBCGenetics. 2021; 4(2): 70-75
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1614266028

  12. Variants of uncertain significance is a clinical dilemma
    Majid Alfadhel
    JBCGenetics. 2021; 4(2): 68-69
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1628277210

  13. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation
    Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi
    JBCGenetics. 2021; 4(1): 64-67
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1600718816

  14. Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family
    Aisha M. AlShamsi, Qudsia R. Shaukat, Mohammed H. AlKuwaiti
    JBCGenetics. 2021; 4(1): 56-63
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1602852756

  15. A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population
    Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi
    JBCGenetics. 2021; 4(1): 51-55
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1603099467

  16. A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome
    Lamya Ahmad Faisal Alrayes, Mohammed Alotaibi, Afaf Alsagheir
    JBCGenetics. 2021; 4(1): 48-50
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1606918375

  17. The association between IVF and chromosomal abnormalities compared to spontaneous conception
    Sawsan Alharthi, Lama Alrasheed, Ghada Alrashed, Ghaida Almutairi, Marwan Nashabat, Majid Alfadhel
    JBCGenetics. 2021; 4(1): 42-47
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1597317668

  18. Do we know properly young age breast cancer patients: a double centre study
    Hale Onder Yilmaz, Halil Tadkaynatan, Mustafa Gokoglu, Orkun Yilmaz, Gokmen Aktas
    JBCGenetics. 2021; 4(1): 35-41
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1606168933

  19. Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1601264923

  20. Knowledge and attitudes regarding etiology and genetic counseling among Saudi children with primary congenital glaucoma
    Abdulwahab AlThib, Rajiv Khandekar, Deepak Edward
    JBCGenetics. 2021; 4(1): 22-26
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1599478278



Pages: 12345


Articles by Year
2022 (2)
2021 (20)
2020 (21)
2019 (22)
2018 (20)


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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
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