Publications
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[ Author] Title Year Filters: Author is Sobreira, Nara and Keyword is Female [Clear All Filters]
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. Am J Med Genet A 167A, 159-63 (2015).
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Eur J Hum Genet 25, 1335-1344 (2017).