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List of works by Maria Iascone

A new mutational mechanism for hypertrophic cardiomyopathy ⬇️

scientific article published on July 20, 2012

Association between 5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Conotruncal Heart Defects ⬇️

scientific article published on March 1, 2003

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy

scientific article published on 21 November 2018

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

scientific article published in 2022

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

scientific article published on 11 August 2021

De novo Deletion of 1q31.1–q32.1 in a Patient with Developmental Delay and Behavioral Disorders ⬇️

scientific article published on March 7, 2012

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

scientific article published on 14 January 2020

ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature

scientific article published on 13 October 2021

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient

scientific article published on 15 October 2020

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

scientific article published on 9 March 2022

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

scientific article published in 2022

PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature

scientific article published on 21 March 2020

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