Suchergebnisse - "Diodato, Daria"

PubPharm (128)

1

Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study

enthalten in: Neuromuscular disorders : NMD | 2024

von Cumbo, F. | Tosi, M. | Catteruccia, M. | +9

2

Congenital heart defects in CTNNB1 syndrome : Raising clinical awareness

enthalten in: Clinical genetics | 2023

von Sinibaldi, L. | Garone, G. | Mandarino, A. | +22

3

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

enthalten in: Annals of neurology | 2023

von McCormick, E. | Keller, K. | Taylor, J. | +45

4

258th ENMC international workshop Leigh syndrome spectrum : genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

enthalten in: Neuromuscular disorders : NMD | 2023

von Diodato, D. | Schiff, M. | Cohen, B. | +37

5

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients : the Italian EURO-NMD experience

enthalten in: Orphanet journal of rare diseases | 2023

von Fortunato, F. | Bianchi, F. | Ricci, G. | +48

6

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

enthalten in: Orphanet journal of rare diseases | 2023

von Fortunato, F. | Bianchi, F. | Ricci, G. | +48

7

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

enthalten in: Orphanet journal of rare diseases | 2023

von Fortunato, F. | Bianchi, F. | Ricci, G. | +48

8

Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset : A Case Report and Review of Literature

enthalten in: Journal of personalized medicine | 2023

von De Rose, D. | Ronci, S. | Caoci, S. | +16

9

Inherited Disorders of Coenzyme A Biosynthesis : Models, Mechanisms, and Treatments

enthalten in: International journal of molecular sciences | 2023

von Cavestro, C. | Diodato, D. | Tiranti, V. | +1

10

Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients

enthalten in: Neuromuscular disorders : NMD | 2022

von Cumbo, F. | Tosi, M. | Catteruccia, M. | +7

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