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EMRICK, LISA
One or more keywords matched the following items that are connected to
EMRICK, LISA
Item Type
Name
Concept
Leukoencephalopathies
Academic Article
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Academic Article
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Academic Article
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Academic Article
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Academic Article
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease.
Search Criteria
Leukoencephalopathies