Suchergebnisse - "Ferradini, Valentina"

PubPharm (6)

1

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome

enthalten in: American journal of medical genetics. Part A | 2023

von Graziani, L. | Cinnirella, G. | Ferradini, V. | +5

2

Case Report : Crossing a rugged road in a primary immune regulatory disorder

enthalten in: Frontiers in pediatrics | 2022

von Sgrulletti, M. | Cifaldi, C. | Di Cesare, S. | +7

3

Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy

enthalten in: Genes | 2021

von Ferradini, V. | Parca, L. | Martino, A. | +8

4

JAK3 mutations in Italian patients affected by SCID : New molecular aspects of a long-known gene

enthalten in: Molecular genetics & genomic medicine | 2018

von Di Matteo, G. | Chiriaco, M. | Scarselli, A. | +8

5

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

enthalten in: Muscle & nerve | 2017

von Cassone, M. | Ferradini, V. | Longo, G. | +7

6

Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome

enthalten in: Circulation journal : official journal of the Japanese Circulation Society | 2016

von Mango, R. | Luchetti, A. | Sangiuolo, R. | +8

CommentIn: Front Physiol. 2017 Dec 12;8:1056. - PMID 29311983

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