Search Results - "Tajè, Silvia"
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Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort
Published in European journal of medical genetics (01-07-2021)“…In the last decade, the number of children and youth with special health care needs (CYSHCN) is increased as a result of the improvement of neonatal and…”
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Embedding Public Engagement in Biomedical Research: a Pilot Experience in the Field of Rare Genetic Disorders
Published in Journal of developmental and physical disabilities (01-08-2020)“…In the last decade, international efforts have been focused on public engagement, to foster public involvement in the affairs and decisions of policy-makers…”
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Incidence of apparent life‐threatening events and post‐neonatal risk factors
Published in Acta Paediatrica (01-02-2017)“…Aim Even though a standard clinical definition for an apparent life‐threatening event (ALTE) was established more than two decades ago, the specific…”
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Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum
Published in American journal of medical genetics. Part A (01-09-2020)“…Cornelia de Lange syndrome Spectrum (CdLSp) is characterized by intellectual disability, facial dysmorphisms, and growth impairment. Although eating…”
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COnsensus on Pediatric Pain in the Emergency Room: the COPPER project, issued by 17 Italian scientific societies
Published in Italian journal of pediatrics (23-07-2020)“…In the pediatric setting, management of pain in the emergency department – and even in common care – is a challenging exercise, due to the complexity of the…”
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A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome
Published in Case reports in immunology (01-01-2013)“…Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. Immunodeficiency which includes both cellular and…”
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Lifetime impact of achondroplasia in Europe (LIAISE): findings from a multinational observational study
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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Health-related quality of life (HRQoL) in achondroplasia: findings from a multinational, observational study
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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eP195 - Health-related quality of life (HRQoL) in achondroplasia: findings from a multinational, observational study
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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OP094 - Lifetime impact of achondroplasia in Europe (LIAISE): findings from a multinational observational study
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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