Articles from Journal of Biochemical and Clinical Genetics
- Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.
Ines Ben Abdallah Bouhjar, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, Hatem Elghezal
JBCGenetics. 2023; 6(2): 153-158
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1672039791
- A case of Ellis-van Creveld syndrome in Palestine
Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh
JBCGenetics. 2023; 6(2): 149-152
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1675543817
- Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma
Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora
JBCGenetics. 2023; 6(2): 144-148
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1677940397
- A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan
JBCGenetics. 2023; 6(2): 138-143
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1690703389
- WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.
Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi
JBCGenetics. 2023; 6(2): 133-137
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1696016763
- Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy
Najla Binsabbar, Sadia Tabassum
JBCGenetics. 2023; 6(2): 129-132
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1698921213
- Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association
Basamat AlMoallem
JBCGenetics. 2023; 6(2): 119-128
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1695642812
- Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review
Mujahid Khan, Muhammad Umair
JBCGenetics. 2023; 6(2): 106-118
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1696867179
- Construction and validation of an immunity-related prognostic signature for lung squamous cell carcinoma
Qing Yue, Wei Han, Ziling Liu, Zain Abbas, Akmal Zubair, Saba Beigh, Hayaa Mohammad Alhuthali, Hind A. Alzahrani, Rasha Mohammed Saleem, Nahed S. Alharthi
JBCGenetics. 2023; 6(2): 097-105
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1674209873
- Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly
Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair
JBCGenetics. 2023; 6(2): 091-096
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1672678766
- Artificial Intelligence in Genomic Analysis: Revolutionizing Healthcare
Majid Alfadhel
JBCGenetics. 2023; 6(2): 089-090
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1709450443
- Progressive pseudorheumatoid dysplasia in an Omani family: a case report
Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi
JBCGenetics. 2023; 6(1): 85-88
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1675359352
- 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
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