Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2020
- Inherited Robertsonian translocation (13;14) in a child with Down 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
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