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2. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. Issue 3 (27th December 2019)

3. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015)

5. Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis. Issue 11 (November 2018)

6. Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy. Issue 8 (6th May 2019)

7. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

8. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Issue 5 (17th August 2021)

9. Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report. (2018)

10. Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects. Issue 3 (24th May 2021)