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1. Phenotypes and genotypes in individuals with SMC1A variants. Issue 8 (26th May 2017)

2. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Issue 1 (December 2016)

3. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. Issue 1 (December 2015)