Search

Search Constraints

You searched for: Author/Creator Follenzi, Antonia

Search Results

1. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia. Issue 8 (28th May 2018)

2. Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Issue 1 (December 2018)

3. Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis. Issue 1 (23rd November 2021)

6. Fetuin B links vitamin D deficiency and pediatric obesity: Direct negative regulation by vitamin D. Issue 182 (September 2018)

9. Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A. (29th April 2020)

10. Liver gene therapy with intein‐mediated F8 trans‐splicing corrects mouse haemophilia A. Issue 6 (2nd May 2022)