Suchergebnisse - "Nadia Tinto"

PubPharm (17)

1

The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy

in: Medicina | 2023

von Giovanna Maione | Fernanda Iafusco | Angela Zanfardino | +4

2

Analysis of Corneal Deformation in Paediatric Patients Affected by Maturity Onset Diabetes of the Young Type 2

in: Diagnostics | 2023

von Michele Lanza | Enza Mozzillo | Rosa Boccia | +6

3

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

in: Genes | 2023

von Ferdinando Barretta | Fabiana Uomo | Filomena Caldora | +8

4

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment

in: Italian Journal of Pediatrics | 2023

von Francesca Di Candia | Valentina Di Iorio | Nadia Tinto | +11

5

Metabolic Treatment of Wolfram Syndrome

in: International Journal of Environmental Research and Public Health | 2022

von Dario Iafusco | Angela Zanfardino | Alessia Piscopo | +14

6

Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother

in: Stem Cell Research | 2021

von Elena Longobardi | Francesco Miceli | Agnese Secondo | +7

7

NGS Analysis Revealed Digenic Heterozygous

in: Diagnostics | 2021

von Fernanda Iafusco | Giovanna Maione | Cristina Mazzaccara | +4

8

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

in: International Journal of Molecular Sciences | 2021

von Cristina Mazzaccara | Bruno Mirra | Ferdinando Barretta | +6

9

Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors

in: Diagnostics | 2021

von Fernanda Iafusco | Giovanna Maione | Francesco Maria Rosanio | +3

10

Dietary Thiols: A Potential Supporting Strategy against Oxidative Stress in Heart Failure and Muscular Damage during Sports Activity

in: International Journal of Environmental Research and Public Health | 2020

von Mariarita Brancaccio | Cristina Mennitti | Arturo Cesaro | +14