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1دورية أكاديمية
المؤلفون: Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, Carolina Putotto, Paolo Versacci, Angelica Bibiana Delogu, Chiara Leoni, Valentina Trevisan, Ileana Croci, Federica Calì, Maria Cristina Digilio, Giuseppe Zampino, Bruno Marino, Giulio Calcagni
المصدر: Genes, Vol 14, Iss 1, p 146 (2023)
مصطلحات موضوعية: 9p deletion syndrome, clinical genetics, congenital heart defects, genotype–phenotype correlation, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Valentina Lodato, Giovanni Parlapiano, Federica Calì, Massimo Stefano Silvetti, Rachele Adorisio, Michela Armando, May El Hachem, Antonino Romanzo, Carlo Dionisi-Vici, Maria Cristina Digilio, Antonio Novelli, Fabrizio Drago, Massimiliano Raponi, Anwar Baban
المصدر: Journal of Cardiovascular Development and Disease, Vol 9, Iss 2, p 47 (2022)
مصطلحات موضوعية: cardiomyopathies, children, syndromes, heterogeneity, multisystemic, personalized approach, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban
المصدر: Journal of Cardiovascular Development and Disease, Vol 8, Iss 11, p 159 (2021)
مصطلحات موضوعية: 1p36 deletion syndrome, heart, aortic dilatation, SKI, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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المؤلفون: Viola Alesi, Silvia Di Tommaso, Mario Bengala, Maria Cristina Digilio, Valentina Lodato, Federica Calì, Antonio Novelli, Valeria Orlando, Fabrizio Drago, Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Elisa Agnolucci
المصدر: Journal of Cardiovascular Development and Disease
Volume 8
Issue 11
Journal of Cardiovascular Development and Disease, Vol 8, Iss 159, p 159 (2021)مصطلحات موضوعية: medicine.medical_specialty, Monosomy, Population, Context (language use), heart, 1p36 deletion syndrome, Article, medicine.artery, Internal medicine, Ascending aorta, medicine, Diseases of the circulatory (Cardiovascular) system, Pharmacology (medical), General Pharmacology, Toxicology and Pharmaceutics, education, SKI, Aorta, education.field_of_study, business.industry, aortic dilatation, medicine.disease, RC666-701, Cardiology, Haploinsufficiency, business, Rare disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d50594cf6881692099b66052b140a1dTest
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5
المؤلفون: Nicole Olivini, Giulio Calcagni, Fabrizio Drago, Francesca Romana Lepri, Rachele Adorisio, Mafalda Mucciolo, Corrado Di Mambro, Anwar Baban, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Federica Calì
المصدر: American Journal of Medical Genetics Part A. 179:2083-2090
مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Cardiomyopathy, Single Center, Young Adult, Internal medicine, Genetics, Humans, Medicine, Genetics (clinical), business.industry, Noonan Syndrome, Infant, medicine.disease, carbohydrates (lipids), PTPN11, Child, Preschool, Mutation, SOS1, Noonan syndrome, Female, Cardiomyopathies, SOS1 Protein, business, Male to female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93789ca608cc43828ebfe54d7585894fTest
https://doi.org/10.1002/ajmg.a.61312Test -
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المؤلفون: Antonio Novelli, Fabrizio Drago, Gessica Vasco, Paola Francalanci, B Dallapiccola, Rachele Adorisio, Anwar Baban, Marianna Cicenia, Antonio Amodeo, Lorena Travaglini, Enrico Bertini, Federica Calì
المصدر: Minerva pediatrics.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, business.industry, Triplet repeat, Hypertrophic cardiomyopathy, Cardiomyopathy, medicine.disease, Peripheral blood, Heart failure, Pediatrics, Perinatology and Child Health, Medicine, Toddler, medicine.symptom, business, Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594de317adbb035edae830a363303401Test
https://pubmed.ncbi.nlm.nih.gov/33820410Test -
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المؤلفون: Federica Calì, Marco Castori, Anwar Baban, Antonio Novelli, Aurelio Secinaro, Paola Grammatico, Viola Alesi, Fabrizio Drago, Francesca Romana Lepri, Silvia Morlino
المصدر: American Journal of Medical Genetics Part A. 179:104-112
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, Marfan syndrome, Systemic disease, Pathology, medicine.medical_specialty, Roma, Adolescent, Iris, 030105 genetics & heredity, Ectopia Lentis, Corneal Diseases, Marfan Syndrome, 03 medical and health sciences, Megalocornea, Transforming Growth Factor beta, Genetics, medicine, Humans, Child, Ectopia lentis, Genetics (clinical), business.industry, Homozygote, Tall Stature, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, Heart, medicine.disease, eye diseases, Phenotype, 030104 developmental biology, Microspherophakia, Latent TGF-beta Binding Proteins, Great arteries, Dysplasia, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc3fde4d9ce72fe82633905b3b9db9fTest
https://doi.org/10.1002/ajmg.a.10Test -
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المؤلفون: Anwar Baban, Bernadette Corica, Maria Gnazzo, Federica Calì, Nicoletta Cantarutti, Daniela Righi, Corrado Di Mambro, Massimo Stefano Silvetti, Bruno Dallapiccola, Antonio Novelli, Ahmad S. Amin, Fabrizio Drago
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7b8d55e11bbe2884c2d796c52e85b56aTest
https://doi.org/10.21203/rs.3.rs-28919/v1Test -
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المؤلفون: Rachele Adorisio, Anwar Baban, Rosalba Carrozzo, Bruno Dallapiccola, Carlo Dionisi-Vici, Frédéric M. Vaz, Cristiano Rizzo, Monia Magliozzi, Fabrizio Drago, Roberta Taurisano, Bernadette Corica, Federica Calì, Francesco Parisi, Michela Semeraro
المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, APH - Personalized Medicine, APH - Methodology
المصدر: American journal of medical genetics. Part A, 182(1), 64-70. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Cardiomyopathy, TMEM70, Neonatal onset, Glutarates, Mitochondrial Proteins, delayed 3-MGA-uria, neonatal cardiomyopathy, TMEM70, Barth (TAZ), Genetics, Medicine, Humans, Family history, Age of Onset, Child, Genetics (clinical), Phenocopy, Metabolic Syndrome, business.industry, Infant, Newborn, Infant, Membrane Proteins, Barth syndrome, 3-Methylglutaconic Aciduria, medicine.disease, Barth Syndrome, Mutation, Etiology, Biomarker (medicine), Female, business, Cardiomyopathies, Barth (TAZ), Acyltransferases, Metabolism, Inborn Errors, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26340de159103e249b3d61dbd1b8bad1Test
http://hdl.handle.net/11573/1402653Test -
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المؤلفون: Nicole Olivini, Alberto Villani, Adriano Carotti, Federica Calì, Giulio Calcagni, Carmen Vitello, Nicoletta Cantarutti, Anwar Baban, Diletta Valentini, Corrado Di Mambro, Viola Alesi, Rachele Adorisio, Bruno Dallapiccola, Bruno Marino, Fabrizio Drago, Maria Cristina Digilio
مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Down syndrome, Heart defect, Aortic Coarctation, Heart Septal Defects, Atrial, Risk Factors, Internal medicine, Genetics, medicine, Humans, In patient, Child, Genetics (clinical), Retrospective Studies, univentricular physiology, High prevalence, business.industry, medicine.disease, Settore MED/38, congenital heart defects, Log-rank test, left-sided congenital heart defects, Child, Preschool, Cohort, atrioventricular septal defects, Cardiology, Population study, Observational study, Female, Morbidity, business, Endocardial Cushion Defects
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d021dfbaca54a436e18d0621a7f8925Test
http://hdl.handle.net/11573/1486424Test