Ilaria Donati
Cesena, Italy
Last Updated: 09/26/2026
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Found 10 publications
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.
Journal: Genes
Published: March 19, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Journal: Human genetics
Published: December 16, 2024
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2020
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Journal: Genes
Published: February 29, 2020
Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].
Journal: Gene
Published: February 11, 2020
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 22, 2018
Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.
Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.
Journal: Molecular genetics & genomic medicine
Published: February 19, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026