Browsing by Author "Lieber, Daniel Solomon"
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Atypical Case Of Wolfram Syndrome Revealed Through Targeted Exome Sequencing In A Patient With Suspected Mitochondrial Disease
Lieber, Daniel Solomon; Vafai, Scott Bradley; Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy Dan; Mootha, Vamsi Krishna (BioMed Central, 2012)Background: Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are ... -
Computational and Experimental Approaches For Evaluating the Genetic Basis of Mitochondrial Disorders
Lieber, Daniel Solomon (2013-10-08)Mitochondria are responsible for many fundamental biological pathways and metabolic processes, including aerobic ATP production by the mitochondrial respiratory chain. In humans, mitochondrial dysfunction can lead to severe ...