Articles from Journal of Biochemical and Clinical Genetics
- A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report
Aslı Güner Öztürk Demir, Akif Ayaz, Muhsin Elmas
JBCGenetics. 2024; 7(2): 114-117
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1726230535
- G6PD Deficiency and Parkinson's Disease: An emerging correlation
Komal Uppal, Himani Kaushik, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor
JBCGenetics. 2024; 7(2): 110-113
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1726144134
- Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study
Suhaib Mohammad Ali Abunaser, Cigdem Pala Ozturk, Anurita Pais
JBCGenetics. 2024; 7(2): 104-109
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1723721178
- Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence
Suhaib Mohammad Ali Abunaser, Anurita Pais, Cigdem Pala Ozturk
JBCGenetics. 2024; 7(2): 098-103
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1723713112
- A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.
Raja Hussain Ali, Muhammad Umair
JBCGenetics. 2024; 7(2): 090-097
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1734529400
- Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study
Muhammad Umair, Saleh Althenayyan, Raja Hussain Ali
JBCGenetics. 2024; 7(2): 081-089
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1734375181
- Variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B
Zaheer Ahmed, Syed Nasir Abbas Shah, Rimsha Zaid, Abdul Jabbar, Adeel Shahid, Nizam Uddin Baloch, Muhammad Jawad Khan, Muhammad Umair
JBCGenetics. 2024; 7(2): 075-080
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1731492813
- Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study
Emtithal Al jishi, Zahra Al sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al mahroos, Heba Alkoheji
JBCGenetics. 2024; 7(2): 068-074
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1722167696
- Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi
Komal Uppal, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor
JBCGenetics. 2024; 7(2): 063-067
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1719473976
- Gene Therapy for Rare Genetic Disorders: Transformative Progress, Challenges, and Future Prospects
Muhammad umair
JBCGenetics. 2024; 7(2): 061-062
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1733834270
- 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
- The Importance and Deficiencies of Medical Treatment Guidelines for Genetic Disorders in the Middle East Region
Majid alfadhel
JBCGenetics. 2024; 7(1): 001-002
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics.183-1725031053
- 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
Pages: 1234...7 |
|
|
