Vasilica Plaiasu

Bucharest, B, Romania

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 17 publications

Interplay between genomic architecture alterations and GDF6 regulation: A candidate mechanism in Nablus mask-like facial syndrome.

Interplay between genomic architecture alterations and GDF6 regulation: A candidate mechanism in Nablus mask-like facial syndrome.

Journal: HGG advances
Published: March 27, 2026

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.

Journal: Genetics in medicine open
Published: February 26, 2025

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.

Journal: Orphanet journal of rare diseases
Published: December 18, 2024

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report.

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report.

Journal: Journal of personalized medicine
Published: September 15, 2023

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.

Journal: Maedica
Published: August 17, 2023

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.

Journal: Orphanet journal of rare diseases
Published: January 21, 2022

Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.

Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.

Journal: Neurocase
Published: January 05, 2022

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

Journal: Orphanet journal of rare diseases
Published: November 15, 2021

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2021

Obstructing Sleep Apnea in Children with Genetic Disorders-A Special Need for Early Multidisciplinary Diagnosis and Treatment.

Obstructing Sleep Apnea in Children with Genetic Disorders-A Special Need for Early Multidisciplinary Diagnosis and Treatment.

Journal: Journal of clinical medicine
Published: April 27, 2021

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Journal: Human genetics
Published: August 24, 2018

Down Syndrome - Genetics and Cardiogenetics.

Down Syndrome - Genetics and Cardiogenetics.

Journal: Maedica
Published: December 09, 2017
Showing 1-12 of 17

Last Updated: 09/26/2026