Z

ZINI N.

Last name: ZINI N.

2016 (v1)

Publication

Metadata-only

Lorenzo Tenchini, clinical anatomist in Parma and forerunner of the simulated face transplant

Toni R. Bassi E. Alfieri M.

No description

Uploaded on: March 27, 2023
2021 (v1)

Publication

Metadata-only

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells expressing the Leu836Pro DDX11 mutation: a comparison with Fanconi anemia.

Bottega R. Ravera S. Napolitano L. M. R.

Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro...

Uploaded on: April 14, 2023