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1دورية أكاديمية
المؤلفون: Daniela Dolce, Novella Ravenni, Cristina Fevola, Michela Francalanci, Paolo Bonomi, Maria Chiara Cavicchi, Valeria Galici, Anna Silvia Neri, Giovanni Taccetti, Vito Terlizzi, Diletta Innocenti, Beatrice Ferrari, Chiara Bianchimani, Erica Camera, Tommaso Orioli, Silvia Campana
المصدر: Heliyon, Vol 10, Iss 5, Pp e26978- (2024)
مصطلحات موضوعية: Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844024030093Test; https://doaj.org/toc/2405-8440Test
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2دورية أكاديمية
المؤلفون: Matteo Botti, Vito Terlizzi, Michela Francalanci, Daniela Dolce, Maria Chiara Cavicchi, Anna Silvia Neri, Valeria Galici, Gianfranco Mergni, Lucia Zavataro, Claudia Centrone, Filippo Festini, Giovanni Taccetti
المصدر: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Cystic fibrosis, Newborn screening for cystic fibrosis CF NBS, CFTR allelic heterogeneity, Immunoreactive trypsinogen, DNA molecular analysis, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1824-7288Test
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3دورية أكاديمية
المؤلفون: Michela Francalanci, Vito Terlizzi, Cristina Fevola, Giulia Di Rosa, Valentina Pierattini, Elena Roselli, Paolo Bonomi, Maria Chiara Cavicchi, Valeria Galici, Anna Silvia Neri, Chiara Bianchimani, Silvia Campana, Daniela Dolce, Novella Ravenni, Erica Camera, Tommaso Orioli, Giovanni Taccetti
المصدر: Children, Vol 10, Iss 2, p 252 (2023)
مصطلحات موضوعية: cystic fibrosis, malnutrition, CFTR modulators, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Giovanni Taccetti, Matteo Botti, Vito Terlizzi, Maria Chiara Cavicchi, Anna Silvia Neri, Valeria Galici, Gianfranco Mergni, Claudia Centrone, Diego G. Peroni, Filippo Festini
المصدر: Diagnostics, Vol 10, Iss 7, p 446 (2020)
مصطلحات موضوعية: cystic fibrosis, salt-loss syndrome, metabolic alkalosis, false-negative cystic fibrosis screening, neonatal screening, diagnosis cystic fibrosis, Medicine (General), R5-920
وصف الملف: electronic resource
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5
المؤلفون: Valeria Galici, Maria Chiara Cavicchi, Anna Silvia Neri, Matteo Botti, C. Centrone, G. Mergni, Vito Terlizzi, Giovanni Taccetti, Lucia Zavataro, Daniela Dolce, Michela Francalanci, Filippo Festini
المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: Male, medicine.medical_specialty, Immunoreactive trypsinogen, Cystic Fibrosis, medicine.medical_treatment, CFTR allelic heterogeneity, Gastroenterology, Cystic fibrosis, Sensitivity and Specificity, Cftr gene, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Meconium, Internal medicine, medicine, Humans, 030212 general & internal medicine, Genetic Testing, Allele, Retrospective Studies, Newborn screening, medicine.diagnostic_test, business.industry, Research, lcsh:RJ1-570, Infant, Newborn, food and beverages, Lactase, lcsh:Pediatrics, General Medicine, medicine.disease, Newborn screening for cystic fibrosis CF NBS, 030228 respiratory system, Italy, DNA molecular analysis, embryonic structures, Allelic heterogeneity, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7863f93145942095987c5424aaaa1b00Test
http://europepmc.org/articles/PMC7788805Test -
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المؤلفون: Vito Terlizzi, Valeria Galici, Anna Silvia Neri, G. Mergni, C. Centrone, Diego Peroni, Giovanni Taccetti, Maria Chiara Cavicchi, Filippo Festini, Matteo Botti
المصدر: Diagnostics, Vol 10, Iss 446, p 446 (2020)
Diagnostics
Volume 10
Issue 7مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Clinical Biochemistry, Primary care, diagnosis cystic fibrosis, Delayed diagnosis, Cystic fibrosis, Article, CFTR mutation screening, cystic fibrosis, false-negative cystic fibrosis screening, metabolic alkalosis, neonatal screening, salt-loss syndrome, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Medicine, Newborn screening, lcsh:R5-920, business.industry, Public health, Genetic disorder, food and beverages, medicine.disease, Hypochloremic alkalosis, 030228 respiratory system, embryonic structures, Allelic heterogeneity, business, lcsh:Medicine (General)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa268e2cf8ad54d4c25e2f5da048d7d3Test
https://www.mdpi.com/2075-4418/10/7/446Test -
7
المؤلفون: Donatello, Salvatore, Roberto, Buzzetti, Ermanno, Baldo, Maria Pia, Forneris, Vincenzina, Lucidi, Daniela, Manunza, Italo, Marinelli, Barbara, Messore, Anna Silvia, Neri, Valeria, Raia, Maria Lucia, Furnari, Gianni, Mastella
المصدر: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 9(2)
مصطلحات موضوعية: Early Diagnosis, Internationality, Neonatal Screening, Cystic Fibrosis, Respiration, Infant, Newborn, Humans, Nutritional Status, Reproducibility of Results, Growth, Registries, Prognosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d40d1e55378faf842aa9d6788f462b83Test
https://pubmed.ncbi.nlm.nih.gov/19955022Test -
8
المؤلفون: Stefano Stagi, Giuseppe Bindi, Anna Silvia Neri, Maria Luisa Giovannucci-Uzielli, Elisabetta Lapi, Fiorella Galluzzi, Roberto Salti
المصدر: Clinical dysmorphology. 12(4)
مصطلحات موضوعية: Williams Syndrome, Thyroid Gland, General Medicine, Thyroid Diseases, Pathology and Forensic Medicine, Radiography, Child, Preschool, Pediatrics, Perinatology and Child Health, Humans, Female, Anatomy, Child, Radionuclide Imaging, Genetics (clinical), Ultrasonography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad759ed639011b6e05c99366cd99d4b4Test
https://pubmed.ncbi.nlm.nih.gov/14564216Test