Publications
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Author [ Title] Year Filters: Author is Lee, Hane and Keyword is Mutation [Clear All Filters]
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A 167A, 2470-3 (2015).
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143, 3242-3261 (2020).