Suchergebnisse - "Onore, Maria Elena"

PubPharm (16)

1

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report

enthalten in: Biomolecules | 2024

von Onore, M. | Picillo, E. | D'Ambrosio, P. | +3

2

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

enthalten in: European journal of human genetics : EJHG | 2024

von Traverso, M. | Baratto, S. | Iacomino, M. | +16

3

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype

enthalten in: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2024

von Picillo, E. | Onore, M. | Passamano, L. | +2

4

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome

enthalten in: Genes | 2023

von Onore, M. | Caiazza, M. | Farina, A. | +6

5

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability : case report and review literature

enthalten in: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2023

von Pizza, A. | Picillo, E. | Onore, M. | +4

6

Spectrum of Genetic Variants in the Dystrophin Gene : A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

enthalten in: Genes | 2023

von Viggiano, E. | Picillo, E. | Passamano, L. | +6

7

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

enthalten in: International journal of molecular sciences | 2022

von Onore, M. | Savarese, M. | Picillo, E. | +3

8

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

enthalten in: Scientific reports | 2022

von Karali, M. | Testa, F. | Di Iorio, V. | +15

9

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

enthalten in: Neurology. Genetics | 2021

von Savarese, M. | Vihola, A. | Jokela, M. | +12

10

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

enthalten in: Diagnostics (Basel, Switzerland) | 2021

von Brunetti-Pierri, R. | Karali, M. | Testa, F. | +8