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Articles from Journal of Biochemical and Clinical Genetics

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis
    Osama Sayed Daif Allah, Alshimaa Hafez Abdelall, Madeha Mahrous Zakhary, Nagwa S. Ahmed, Asmaa Mohamed Goda
    JBCGenetics. 2021; 4(1): 14-21
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1598435875

  20. Epidermal growth factor receptor and STAT3 signal through KRAS have mutually opposite effects on CTEN
    Saleh AlGhamdi, Salih Ibrahim, Kanwal Balloch, Darryl Jackson, Mohammad Ilyas
    JBCGenetics. 2021; 4(1): 1-13
    » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1594626414


Pages: 12345

Articles by Year
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
Indexing & Abstracting : bibliomed
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