Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2021
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
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