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Titlebook: Rare Diseases; Integrative PPPM App Meral Özgüç Book 2015 Springer Science+Business Media Dordrecht 2015 Invivo disease models.Personalized

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Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease,d the complexity in interpreting genetic data in multigene disorders. Factors including genetic modifiers, gene-gene interaction, reduced penetrance, imprinting, processed and non-processed pseudogenes, regulatory polymorphisms, epigenetics and the abundant number of private mutations, provide chall
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Induced Pluripotency for the Study of Disease Mechanisms and Cell Therapy,s with genetic or other disorders and use of them as a “human cell model of human disease” to understand the mechanisms of the disease and to possibly find new chemicals to correct the defective pathways. This approach has already led to discoveries of new routes to medical treatments and potentiall
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