Recent Articles
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August 05, 2023 Letter to the Editor
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September 01, 2022 Case Report
Abstract Background: People with intellectual disability have limited access to diagnostic procedures due to poor collaboration and inability to understand instructions. There is a need to render diagnostic services more accessible to individuals with intel.....
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November 11, 2021 Review Article
Abstract Sickle cell disease is one of the most common monogenic causes of hemolytic anemia worldwide. The main pathophysiology is based on the single nucleotide polymorphism resulting in hemoglobin polymerization leading to sickle red blood cells. The sickle.....
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February 19, 2021 Review ArticleImportance of genome-wide sequencing and MLPA techniques in gene diagnosis for nail patella syndrome
Abstract Nail patella syndrome (NPS) is a rare autosomal dominant hereditary disease caused by mutations in LMX1B gene, which characterized by nail malformations, patellar =hypoplasia or absence. The development of technology for gene diagnosis provided cond.....
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November 08, 2018 Research Article
Abstract Background: With increasing variant of unknown significance (VUS) genetic testing (GT) results, we evaluated the significance on surgical management for breast cancer patients. Methods: Patients from an IRB-approved database recruited from November.....
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August 24, 2017 Research Article
Abstract Children with velocardiofacial syndrome (VCFS) frequently display mathematics difficulties. Research into the specific mathematical strengths and weaknesses in this population is relatively limited. Previous studies into mathematical abilities in VCF.....
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May 05, 2017 Review Article
Abstract The corneal endothelium serves primarily in maintaining stromal deturgescence which is essential for transparency of cornea. Any disturbance in its function leads to stromal edema which in turn reduces vision. The genetically heterogeneous nature of .....
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April 21, 2017 Review Article
Abstract Introduction: The Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by oculo cutaneous albinism, a bleeding diathesis and lysosomal accumulation of ceroid lipofuscin. Objectives: To do a comprehensive literature review of the.....
