Publications
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Author Title [ Year] Filters: Keyword is Female and Author is Marom, Ronit [Clear All Filters]
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38, 1365-1371 (2017).
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A 173, 2789-2794 (2017).