Articles from Journal of Biochemical and Clinical Genetics
- Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report
Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla
JBCGenetics. 2023; 6(1): 80-84
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1671616459
- Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi
JBCGenetics. 2023; 6(1): 75-79
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1670866871
- Dilated cardiomyopathy associated with NRAP gene: a case series
Abdellh A. Names, Mohammed A. Tohary, Basel A. Hadad, Abdurahman H. Alhazmi, Hamad M. Alaksham, Hassan M. Gohal, Ghadah M. Gosadi, Ali A. Awaji, Mohammad A. Jareebi
JBCGenetics. 2023; 6(1): 70-74
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1668575222
- Genetic advances in skeletal disorders: an overview
Safdar Abbas, Hammal Khan, Qamre Alam, Arif Mahmood, Muhammad Umair
JBCGenetics. 2023; 6(1): 57-69
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1672021989
- The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi
JBCGenetics. 2023; 6(1): 41-56
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1664963756
- Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance
Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel
JBCGenetics. 2023; 6(1): 36-40
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1676870604
- A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A
Muhammad Bilal, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, Muhammad Umair
JBCGenetics. 2023; 6(1): 29-35
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1673499250
- Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene
Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas
JBCGenetics. 2023; 6(1): 22-28
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1673224261
- Erythropoietin resistance in patients with regular hemodialysis in Sohag university hospital
Nagwa S. Ahmed, Aida A Mahmoud, Nayel Abd Elhamed Zaki, Amera A. Genedy
JBCGenetics. 2023; 6(1): 14-21
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1670609060
- Supplementary testing after negative or inconclusive exome sequencing results
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
JBCGenetics. 2023; 6(1): 1-13
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1659513785
- Vosoritide: a drug providing a promising avenue for the treatment of short stature in children with achondroplasia
Amsal Qureshi, Areesha Moiz Alvi
JBCGenetics. 2022; 5(2): 059-060
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1653668216
- Phelan-McDermid syndrome: a case report and review of the literature
Osama Yousef Muthaffar, Anas Saeed Alyazidi
JBCGenetics. 2022; 5(2): 053-058
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1646057756
- NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih
JBCGenetics. 2022; 5(2): 48-52
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1665949143
- A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing
Gulhan Gurel, Muhsin Elmas, Basak Gogus
JBCGenetics. 2022; 5(2): 043-047
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1656681352
- Genetic impact of non-consanguineous marriages in Saudi Arabia.
Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
JBCGenetics. 2022; 5(2): 37-42
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1664872492
- Karyotyping in the era of Genome Sequencing
Hatem Elghezal
JBCGenetics. 2022; 5(2): 35-36
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1657624831
- A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review
Abdulla Al Blooshi, Aisha Al-Shamsi
JBCGenetics. 2022; 5(1): 29-34
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1645370249
- A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser
JBCGenetics. 2022; 5(1): 25-28
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1631602838
- A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia
Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan
JBCGenetics. 2022; 5(1): 20-24
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1630496130
- Tyrosinemia type I: an unusual case presentation
Marwa ALMahroos, Mohammed AlMannai
JBCGenetics. 2022; 5(1): 17-19
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1624791068
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