Amelia M. Dobrescu
Craiova, DJ, Romania
Last Updated: 09/26/2026
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Found 11 publications
Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.
Journal: Journal of neuromuscular diseases
Published: July 23, 2026
Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.
Journal: Human mutation
Published: May 04, 2026
Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.
Journal: International journal of molecular sciences
Published: December 23, 2025
ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.
Journal: Neuropathology and applied neurobiology
Published: February 24, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Journal: Clinical genetics
Published: December 26, 2024
The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.
Journal: Medicina (Kaunas, Lithuania)
Published: October 10, 2024
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.
Journal: Neurology(R) neuroimmunology & neuroinflammation
Published: August 06, 2024
Lack of Association Between BsmI and FokI Polymorphisms of the VDR Gene and Sporadic Colorectal Cancer in a Romanian Cohort-A Preliminary Study.
Journal: Current oncology (Toronto, Ont.)
Published: July 09, 2024
Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.
Journal: Diagnostics (Basel, Switzerland)
Published: November 08, 2022
Correlation between Tgf-Β1 and Fsp-1 Expression in Chronic Viral Hepatitis - an Immunohistochemical Study.
Journal: Current health sciences journal
Published: February 02, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026