M

MILANI D.

Last name: MILANI D.

2023 (v1)

Publication

Metadata-only

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Testa B. Conteduca G. Grasso M.

Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the clinical diagnostic uncertainty. We screened 1530 unrelated patients enrolled from 2003 to 2021 at...

Uploaded on: February 14, 2024
2018 (v1)

Publication

Metadata-only

The Cortabbio-Primaluna barite mine (Valsassina, Lc): emotion, experience and disability

Grieco G. Lotti P. Milani D.

No description

Uploaded on: April 14, 2023