Articles from Journal of Biochemical and Clinical GeneticsArticles published in 2024
- 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
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