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