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A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review

Frontiers in pediatrics, 2019-07, Vol.7, p.270

2019

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Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels

Scientific reports, 2020-01, Vol.10 (1), p.223-223, Article 223

2020

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Clinical relevance of retinal structure in children with laser‐treated retinopathy of prematurity versus controls – using optical coherence tomography

Acta ophthalmologica (Oxford, England), 2018-03, Vol.96 (2), p.e222-e228

2018

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When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis

Genes, 2023-10, Vol.14 (11), p.2021

2023

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The impact of theory of mind, stress and professional experience on empathy in Romanian community nurses—a cross-sectional study

BMC nursing, 2023-10, Vol.22 (1), p.1-400, Article 400

2023

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A randomized controlled trial for overweight and obesity in preschoolers: the More and Less Europe study - an intervention within the STOP project

BMC public health, 2019-07, Vol.19 (1), p.945-945, Article 945

2019

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Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients

International journal of molecular sciences, 2024-02, Vol.25 (5), p.2562

2024

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A comprehensive analysis concerning eating behavior associated with chronic diseases among Romanian community nurses

Frontiers in public health, 2024-03, Vol.12, p.1368069-1368069

2024

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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.103-103, Article 103

2020

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Vitamin D Status: A Different Story in the Very Young versus the Very Old Romanian Patients

PloS one, 2015-05, Vol.10 (5), p.e0128010-e0128010

2015

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Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review

Medicina (Kaunas, Lithuania), 2024-04, Vol.60 (4), p.543

2024

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Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis

Frontiers in genetics, 2022-04, Vol.13, p.870233

2022

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Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Italian journal of pediatrics, 2022-12, Vol.48 (1), p.207-207, Article 207

2022

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Phospholamban p.Leu39 Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review

Journal of cardiovascular development and disease, 2024-01, Vol.11 (2), p.41

2024

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Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity

Nutrients, 2019-10, Vol.11 (11), p.2600

2019

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Overweight and Underweight Prevalence Trends in Children from Romania - Pooled Analysis of Cross-Sectional Studies between 2006 and 2015

Obesity facts, 2016-06, Vol.9 (3), p.206-220

2016

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Making Childhood Obesity a Priority: A Qualitative Study of Healthcare Professionals' Perspectives on Facilitating Communication and Improving Treatment

Frontiers in public health, 2021-07, Vol.9, p.652491-652491

2021

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Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

Frontiers in pediatrics, 2021-07, Vol.9, p.612644-612644

2021

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Antibiotic Resistance Patterns of Uropathogens Causing Urinary Tract Infections in Children with Congenital Anomalies of Kidney and Urinary Tract

Children (Basel), 2021-07, Vol.8 (7), p.585

2021

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Synthesis, characterization and enzymatic degradation of copolymers of ε-caprolactone and hydroxy-fatty acids

Pure and applied chemistry, 2016-12, Vol.88 (12), p.1191-1201

2016

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Assessment of Nutritional Intakes in Individuals with Obesity under Medical Supervision. A Cross-Sectional Study

International journal of environmental research and public health, 2019-08, Vol.16 (17), p.3036

2019

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Hunter syndrome follow-up after 1 year of enzyme-replacement therapy

BMJ case reports, 2013-01, Vol.2013, p.bcr2012007644

2013

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Synthesis and preliminary characterization of polyurethane nanoparticles with ginger extract as a possible cardiovascular protector

International journal of nanomedicine, 2019-05, Vol.14, p.3691-3703

2019

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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.142-142, Article 142

2021

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Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

Journal of medical genetics, 2021-09, Vol.58 (9), p.648

2021

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A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels

Clinical relevance of retinal structure in children with laser‐treated retinopathy of prematurity versus controls – using optical coherence tomography

When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis

The impact of theory of mind, stress and professional experience on empathy in Romanian community nurses—a cross-sectional study

A randomized controlled trial for overweight and obesity in preschoolers: the More and Less Europe study - an intervention within the STOP project

Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients

A comprehensive analysis concerning eating behavior associated with chronic diseases among Romanian community nurses

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Vitamin D Status: A Different Story in the Very Young versus the Very Old Romanian Patients

Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Phospholamban p.Leu39 Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review

Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity

Overweight and Underweight Prevalence Trends in Children from Romania - Pooled Analysis of Cross-Sectional Studies between 2006 and 2015

Making Childhood Obesity a Priority: A Qualitative Study of Healthcare Professionals' Perspectives on Facilitating Communication and Improving Treatment

Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

Antibiotic Resistance Patterns of Uropathogens Causing Urinary Tract Infections in Children with Congenital Anomalies of Kidney and Urinary Tract

Synthesis, characterization and enzymatic degradation of copolymers of ε-caprolactone and hydroxy-fatty acids

Assessment of Nutritional Intakes in Individuals with Obesity under Medical Supervision. A Cross-Sectional Study

Hunter syndrome follow-up after 1 year of enzyme-replacement therapy

Synthesis and preliminary characterization of polyurethane nanoparticles with ginger extract as a possible cardiovascular protector

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

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