Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience
Sign Up to like & getrecommendations! Published in 2020 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2020.106398
Abstract: INTRODUCTION A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield of genetic testing in identifying potential disease causing variants… read more here.
Keywords: genotype phenotype; onset developmental; phenotype correlates; yield ... See more keywords
Obstacles to Translating Genotype-Phenotype Correlates in Metabolic Disease.
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DOI: 10.1152/physiol.00009.2016
Abstract: Type 2 diabetes mellitus is a polygenic disease with a variable phenotype. Many genetic associations have been described; however, understanding their underlying pathophysiological role in Type 2 diabetes mellitus is important for development of future… read more here.
Keywords: phenotype; genotype phenotype; disease; obstacles translating ... See more keywords