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1.	PDF ResearchWeek.2023.Shao.Connie Validity, reliability, and responsiveness of the Individual Pityriasis Rubra Pilaris Area and Severity Index (iPRPASI) Shao, Connie ; Velasco, Rose ; Greiling, T.M. Pityriasis rubra pilaris (PRP) is a rare inflammatory cutaneous condition characterized by widespread erythematous scaly plaques and palmoplantar keratoderma. PRP skin in [...] 2023-09-08 \| Abstract \| Detailed record - Similar records
2.	PDF ResearchWeek.2023.Sullivan.Jennifer A novel computational framework for inferring the developmental and cellular origins of rare and congenital disorders using scRNA-seq data Sullivan, Jennifer ; Adey, Andrew ; Schweitzer, Ronen ; McWeeney, Shannon[...] Despite their devastating impacts on millions of people, most rare and congenital disorders remain poorly understood, leaving the patients with these disorders with no FD [...] 2023-07-20 \| Abstract \| Detailed record - Similar records
3.	PDF swan.ryan.2019 Development of a network-based measure of genetic risk and its application in preterm birth and retinopathy of prematurity Swan, Ryan Despite incredible advances in the recruitment and phenotyping of patients for genomewide association studies (GWAS) in the past decade, the ability to ascertain the caus [...] 2019 \| Dissertation \| Detailed record - Similar records
4.	PDF ResearchWeek.2020.Saini.Ajesh Sudden cardiac death in young adults with long-chain 3-hydroxyacyl coa dehydrogenase deficiency (LCHADD) Saini, Ajesh ; Gonzales-De Alba, Cesar ; Devine, Tiffany Long-chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency (LCHADD) is an autosomal recessive defect in fatty acid oxidation that presents with hypoketotic hypoglycemia and/or [...] 2020 \| Abstract \| Detailed record - Similar records

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