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You searched for: Author/Creator Pinelli, Michele

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1. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Issue 2 (12th December 2017)

2. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Issue 6 (29th April 2020)

4. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (12th June 2020)

10. Author Correction: Parent-of-origin-specific signatures of de novo mutations. (November 2018)