ERD

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Graph Theoretical Characteristics of EEG-Based Functional Brain Networks in Patients With Epilepsy: The Effect of Refere...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Differential genetic and functional background in inflammatory bowel disease phenotypes of a Greek population: a systems...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

A Novel BaEVRless-Pseudotyped γ-Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin Expression and Improve...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Disruptive Technology: CRISPR/Cas-Based Tools and Approaches

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Theranostics of Genetic Diseases

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Gene variants of adhesion molecules predispose to MS: A case-control study

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

De novo mosaic MECP2 mutation in a female with Rett syndrome

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Epilepsy Pioneers including their Short Biography in Cyprus from Past to Present and Current Educational Programs in Cyp...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

The provision of epilepsy care across Europe 2017: A 17-year follow-up survey

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Improved cellular uptake of perfluorocarbon nanoparticles for in vivo murine cardiac 19F MRS/MRI and temporal tracking o...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Evaluation of Epstein-Barr virus-specific antibodies in Cypriot multiple sclerosis patients

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Electrophysiological testing in concussion: A guide to clinical applications

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Genetic Testing and Clinical Management Practices for Variants in Non- BRCA1 / 2 Breast (and Breast/Ovarian) Cancer Susc...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Sequential Role of SOXB2 Factors in GABAergic Neuron Specification of the Dorsal Midbrain

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Genomic Arrayis in Prenatal Diagnosis

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced tra...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic ...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated...

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

The possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease

Project: BIORISE

Updated at: 17-05-2024

Show more information

Project acronym BIORISE

Resources