Articles from Journal of Biochemical and Clinical Genetics
- 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
- Geomapping genetic diseases in KSA, the opportunity and challenges
Eissa A. Faqeih JBCGenetics. 2020; 3(1): 1-2 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1589128987
- Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair JBCGenetics. 2019; 2(2): 151-155 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1542544695
- Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants
Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs JBCGenetics. 2019; 2(2): 147-150 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1562077620
- Congenital muscular dystrophy a case study with a mutation in the POMT1 gene
Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak JBCGenetics. 2019; 2(2): 143-146 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1566823566
- Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi JBCGenetics. 2019; 2(2): 139-142 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1565654717
- Genetics of autism spectrum disorders: a long road to pass
Abdul-Mohsen Alhejaily, Majid Alfadhel JBCGenetics. 2019; 2(2): 122-138 » Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1571295180
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