Letizia Pintomalli
Bianchi, Italy
Last Updated: 09/26/2026
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Found 9 publications
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 19, 2023
The First Identification in Italy of SARS-CoV-2 Omicron BA.4 Harboring KSF141_del: A Genomic Comparison with Omicron Sub-Variants.
Journal: Biomedicines
Published: July 01, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Journal: Clinical genetics
Published: February 17, 2022
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.
Journal: European journal of endocrinology
Published: September 16, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Journal: Journal of intellectual disability research : JIDR
Published: October 31, 2019
Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation.
Journal: Diabetes therapy : research, treatment and education of diabetes and related disorders
Published: March 11, 2019
Showing 1-9 of 9
Last Updated: 09/26/2026