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3. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. (November 2016)

4. Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman. (7th May 2022)