Articles from Journal of Biochemical and Clinical Genetics
- Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases
Hajira Karim, Lima Oria, Muhsin Elmas
JBCGenetics. 2024; 7(1): 054-058
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1718405078
- Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report
Ankur Jindal, Komal Uppal, Sunil Kumar Polipalli, Seema Kapoor
JBCGenetics. 2024; 7(1): 048-053
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1717853866
- Polyendocrinopathy, deafness and albinism, a new combination syndrome
Isaq A. AlMughaizel, Abdulhameed A. Al-Bunyan, Yassin M. Al-saleh, Eman S. AlMoosa, Manal M. Al-Shawi, Yaqoub Y. AlMousa, Fatimah M. AlJishi
JBCGenetics. 2024; 7(1): 038-047
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1710231952
- Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study
Shweta Mahalingam, Rashmi Rasalkar, Meenakshi Lallar, Avinash Pradhan, Sneha Khairnar, Angela Devanboo, Eswarachari Venkataswamy, Satish Kariyaiah, Vedam L. Ramprasad, Priya Kadam
JBCGenetics. 2024; 7(1): 031-037
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1708424799
- Atypical down syndrome features with an atypical chromosomal rearrangement: a case report
Hiba Abu Khalil, Mohammed Almannai, Mohammed Albalwi, Wafaa Eyaid
JBCGenetics. 2024; 7(1): 28-30
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1677356499
- IHH gene variants in North Indian individuals with brachydactyly A1
Shalini Dhiman, Inusha Panigrahi, Shifali Gupta, Harvinder Kaur
JBCGenetics. 2024; 7(1): 019-027
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1717051282
- Kohlschütter–Tönz syndrome: clinical and genetic insight on patients with ROGDI variant
Osama Y. Muthaffar, Lina M. Abdulrahman, Anas S. Alyazidi, Taif K Alotibi
JBCGenetics. 2024; 7(1): 010-018
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1709130779
- Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia
Hussain H. Al Saeed , Fahad Alabbas, Ghaleb Elyamany, Abdulrahman Alshehri, Ahmed M. Al-Suliman, Ohoud F. kashari, Anees Malik, Binyam Usman, Maha Sallam, Insherah Barnawi, Ibrahim S. Ghita, Hassan Masmali, Ayman Alhejazi
JBCGenetics. 2024; 7(1): 001-009
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1680730821
- 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
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