donatella milani

Donatella Milani: A Journey from Music to Personal Struggles and Back - Il Messaggero

English edition - 08 Nov 2024
Donatella Milani: A Journey from Music to Personal Struggles and Back ...

CATSHL syndrome, a new family and phenotypic expansion - Cannova - 2024 - Clinical Genetics

Wiley Online Library - 22 Nov 2023
CATSHL syndrome, a new family and phenotypic expansion - Cannova - 2024 - Clinical Genetics ...

I’m a Koons Fan

Fondazione Palazzo Strozzi - 04 Nov 2021
I’m a Koons Fan ...

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Nature.com - 08 Jul 2020
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes ...

The patient’s karyotype shows an extra supernumerary chromosome.

ResearchGate - 07 Feb 2018
The patient’s karyotype shows an extra supernumerary chromosome. ...

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques

Wiley Online Library - 17 Jul 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques ...

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Nature.com - 03 Feb 2010
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis ...

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Nature.com - 21 Oct 2009
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis ...