Browsing Human Genetics and Molecular Medicine-Master Dissertation by Author "Khetarpal, Preeti"
Now showing items 1-3 of 3
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Analysis of exonic region of PCNT gene in Microcephalic Osteodysplastic Primordial Dwarfism Type II subjects
Gupta, Neha (Central University of Punjab, 2018)MOPD II is an autosomal recessive disorder. It is characterised by the presence of intra uterine growth retardation as well as post natal growth retardation. The adult height is not more than 100 cm. It has been found ... -
Bioinformatic Analysis of Whole Exome Data
Md Momin Ali (Central University of Punjab, 2018)Whole Exome Sequencing (WES) is a capture-based method developed to sequence exome and to identify variants in the coding region of genes that affect protein function. Understanding the exomes of individuals at single base ... -
Investigation for Maternal Uniparental Disomy of Chromosome 7 in a Silver Russell Syndrome patient
Gupta, Swati (Central University of Punjab, 2018)Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder. Individuals with SRS show clinical features with varying severity. The major criteria for clinical diagnosis of SRS are intrauterine growth retardation ...