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Developments in Genetics: Better Management of Ovarian Cancer Patients

International journal of molecular sciences, 2023-11, Vol.24 (21), p.15987

2023

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Lack of Information on the Effects of COVID-19 on Rare Pathologies Has Further Hampered Access to Healthcare Services

Frontiers in public health, 2022-03, Vol.10, p.852880-852880

2022

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The Role of Aminopeptidase ERAP1 in Human Pathology-A Review

Current issues in molecular biology, 2024-02, Vol.46 (3), p.1651-1667

2024

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Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants

Medicina (Kaunas, Lithuania), 2024-06, Vol.60 (7), p.1064

2024

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Exploring the Literature on Narcolepsy: Insights into the Sleep Disorder That Strikes during the Day

NeuroSci, 2023-12, Vol.4 (4), p.263-279

2023

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Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

Frontiers in genetics, 2023-11, Vol.14, p.1258752-1258752

2023

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Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways-Case Report and Literature Review

Genes, 2023-02, Vol.14 (2), p.433

2023

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Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array

Journal of personalized medicine, 2024-03, Vol.14 (3), p.290

2024

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The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients

Genes, 2021-07, Vol.12 (7), p.1025

2021

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Case report: Tackling the complexities of an extremely premature newborn with intrauterine growth restriction and congenital metabolic disorders through a multidisciplinary approach

Frontiers in pediatrics, 2023-06, Vol.11, p.1162226

2023

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"SHARE. CARE. CURE." – A EUROPEAN REFERENCE NETWORK FOR RARE INFECTIOUS DISEASES

Romanian archives of microbiology and immunology, 2021-12, Vol.80 (4), p.363-364

Severin, Emilia

2021

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Correlations between Demographic, Clinical, and Paraclinical Variables and Outcomes in Patients with KRAS-Mutant or KRAS Wild-Type Metastatic Colorectal Cancer—A Retrospective Study from a Tertiary-Level Center in Romania

Diagnostics (Basel), 2023-09, Vol.13 (18), p.2930

2023

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Rare diseases in Romania - a response to 'transposition and implementation of EU rare diseases policy in Eastern Europe'

Expert review of pharmacoeconomics & outcomes research, 2018-05, Vol.18 (3), p.233-234

Severin, Emilia

2018

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The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy: From Child to Adult-Insights from a Tertiary Centre for Rare Neurological Diseases

Children (Basel), 2023-05, Vol.10 (6), p.959

2023

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Letter to the Editor: Detection of the GJB2 gene mutations in two children with hearing impairment

Revista română de medicină de laborator, 2015-12, Vol.23 (4), p.495-499

2015

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Novel Mixed-Ligand Copper(I) Complexes: Role of Diimine Ligands on Cytotoxicity and Genotoxicity

Journal of medicinal chemistry, 2013-09, Vol.56 (18), p.7416-7430

2013

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Health systems sustainability in the framework of rare diseases actions. Actions on educational programmes and training for professionals and patients

Annali dell'Istituto superiore di sanita, 2019-01, Vol.55 (3), p.265

2019

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Innovative and Needs-led research on β-thalassemia treatment methods

Frontiers in hematology, 2023-01, Vol.1

2023

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Recognition of early warning signs and symptoms by caregivers, general practitioners and paediatricians – the first steps on the road to Autism Spectrum Disorder diagnosis

Annali dell'Istituto superiore di sanità, 2022-01, Vol.58 (3), p.183

2022

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Respiratory pathology in a patient with muscular dystrophy

Pneumologia, 2022-09, Vol.71 (2), p.81-88

2022

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Congenital diaphragmatic hernia: a retrospective study regarding the clinical experience of Bihor County Genetics Center

Roumanian biotechnological letters, 2021-04, Vol.26 (3), p.2671-2678

2021

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Prenatal genetic testing through NIPT - screening method in high risk pregnancies for fetal malformations

Ginecologia.ro, 2017, Vol.2 (16), p.32

2017

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Common, Rare, and Individual Oro-dental Findings in People with Down Syndrome

Journal of international oral health, 2016-10, Vol.8 (10), p.964

2016

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Prenatal testing – a study on patients’ knowledge and attitude

Ginecologia.ro, 2018, Vol.3 (21), p.6

2018

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Common, Rare, and Individual Oro-dental Findings in People with Down Syndrome

Journal of international oral health, 2016-10, Vol.8 (10), p.964

2016

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Developments in Genetics: Better Management of Ovarian Cancer Patients

Lack of Information on the Effects of COVID-19 on Rare Pathologies Has Further Hampered Access to Healthcare Services

The Role of Aminopeptidase ERAP1 in Human Pathology-A Review

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants

Exploring the Literature on Narcolepsy: Insights into the Sleep Disorder That Strikes during the Day

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways-Case Report and Literature Review

Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients

Case report: Tackling the complexities of an extremely premature newborn with intrauterine growth restriction and congenital metabolic disorders through a multidisciplinary approach

"SHARE. CARE. CURE." – A EUROPEAN REFERENCE NETWORK FOR RARE INFECTIOUS DISEASES

Correlations between Demographic, Clinical, and Paraclinical Variables and Outcomes in Patients with KRAS-Mutant or KRAS Wild-Type Metastatic Colorectal Cancer—A Retrospective Study from a Tertiary-Level Center in Romania

Rare diseases in Romania - a response to 'transposition and implementation of EU rare diseases policy in Eastern Europe'

The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy: From Child to Adult-Insights from a Tertiary Centre for Rare Neurological Diseases

Letter to the Editor: Detection of the GJB2 gene mutations in two children with hearing impairment

Novel Mixed-Ligand Copper(I) Complexes: Role of Diimine Ligands on Cytotoxicity and Genotoxicity

Health systems sustainability in the framework of rare diseases actions. Actions on educational programmes and training for professionals and patients

Innovative and Needs-led research on β-thalassemia treatment methods

Recognition of early warning signs and symptoms by caregivers, general practitioners and paediatricians – the first steps on the road to Autism Spectrum Disorder diagnosis

Respiratory pathology in a patient with muscular dystrophy

Congenital diaphragmatic hernia: a retrospective study regarding the clinical experience of Bihor County Genetics Center

Prenatal genetic testing through NIPT - screening method in high risk pregnancies for fetal malformations

Common, Rare, and Individual Oro-dental Findings in People with Down Syndrome

Prenatal testing – a study on patients’ knowledge and attitude

Common, Rare, and Individual Oro-dental Findings in People with Down Syndrome

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