Search Results - "Dobrescu, Amelia Mihaela"
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Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients
Published in International journal of molecular sciences (22-02-2024)“…Dilated cardiomyopathy (DCM) represents a group of disorders affecting the structure and function of the heart muscle, leading to a high risk of heart failure…”
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Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort
Published in Diagnostics (Basel) (01-12-2022)“…The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not…”
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Electrochemical monitoring of bronchial inflammation in pediatric athletes: A prospective study
Published in Experimental and therapeutic medicine (01-02-2022)“…The assessment of inflammation by accessible, reproducible and especially non-invasive methods is one of the main goals for numerous medical specialties. One…”
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P56 Challenges in rare diseases diagnostic: aicardi-goutieres syndrome – a case report
Published in Archives of disease in childhood (01-06-2017)“…Background and AimIn Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were…”
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P56Challenges in rare diseases diagnostic: aicardi-goutieres syndrome - a case report
Published in Archives of disease in childhood (01-06-2017)“…Background and AimIn Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were…”
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Associated Chromosomal Abnormalities in Fetuses Diagnosed Prenatally with Right Aortic Arch
Published in Current health sciences journal (01-04-2021)“…Right aortic arch (RAA) is an abnormal embryologic development of the aorta characterized by its descendance on the right side of the trachea. This anomaly is…”
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Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort
Published in Genes (15-07-2022)“…Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are…”
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In vitro evaluation of Axitinib and Sorafenib treatment in glioblastoma cell viability and morphology
Published in Romanian journal of morphology and embryology (01-04-2023)“…The formation, proliferation, and evolution of glioblastoma (GB) are significantly influenced by pathological angiogenesis. This is supported by several growth…”
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Multidisciplinary approach to patients with manifestations and pulmonary complications of cystic fibrosis
Published in Romanian journal of morphology and embryology (01-01-2020)“…Cystic fibrosis (CF) is a genetic disease, with autosomal recessive transmission, multisystemic, characterized by a remarkable clinical polymorphism and…”
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A novel method for measuring subcutaneous adipose tissue using ultrasound in children - interobserver consistency
Published in Romanian journal of morphology and embryology (2017)“…Currently, sufficiently accurate field methods for body composition assessment in children are missing. The ultrasound method for assessing adipose tissue…”
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Ocular cells and light: harmony or conflict?
Published in Romanian journal of morphology and embryology (2014)“…Vision is based on the sensitivity of the eye to visible rays of the solar spectrum, which allows the recording and transfer of visual information by…”
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Intrapartum diagnostic of Roberts syndrome - case presentation
Published in Romanian journal of morphology and embryology (2015)“…Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases…”
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