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1دورية أكاديمية
المؤلفون: Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria Cristina Digilio, Anwar Baban, Sonia B. Albanese, Paolo Versacci, Enrica De Luca, Giovanni B. Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P. Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
المصدر: Data in Brief, Vol 16, Iss , Pp 649-654 (2018)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390
وصف الملف: electronic resource
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المؤلفون: Giulio Calcagni, Maria Giovanna Russo, Gabriella Agnoletti, Giuseppe Pacileo, Maurizio Brighenti, Roberto Formigari, Giulia Tuo, Sonia B. Albanese, Ornella Milanesi, Marta Unolt, Francesca Cairello, Giuseppina Baldassarre, Enrica De Luca, Maria Cristina Digilio, Bruno Dallapiccola, Giovanni Battista Ferrero, Bruno Marino, Elena Banaudi, Maurizio Marasini, Anwar Baban, Fabrizio Drago, Jan Marek, Giulia Gagliostro, Giuseppe Limongelli, Luca Ragni, Andrea Donti, Marco Tartaglia, Juan Pablo Kaski, Paolo Versacci, Andrea Madrigali
المساهمون: Calcagni, G., Gagliostro, G., Limongelli, G., Unolt, M., De Luca, E., Digilio, M. C., Baban, A., Albanese, S. B., Ferrero, G. B., Baldassarre, G., Agnoletti, G., Banaudi, E., Marek, J., Kaski, J. P., Tuo, G., Marasini, M., Cairello, F., Madrigali, A., Pacileo, G., Russo, M. G., Milanesi, O., Formigari, R., Brighenti, M., Ragni, L., Donti, A., Drago, F., Dallapiccola, B., Tartaglia, M., Marino, B., Versacci, P.
مصطلحات موضوعية: 0301 basic medicine, Aortic valve, Adult, Heart Defects, Congenital, Embryology, medicine.medical_specialty, Adolescent, Health, Toxicology and Mutagenesis, medicine.medical_treatment, 030105 genetics & heredity, RASopathy, Toxicology, Pericardial effusion, CardioFacioCutaneous syndrome, 03 medical and health sciences, Young Adult, Ectodermal Dysplasia, Internal medicine, medicine, Noonan syndrome multiple lentigines, Noonan syndrome multiple lentigine, Humans, Noonan syndrome, Child, RASopathies, Retrospective Studies, congenital heart disease, business.industry, Mitral valve replacement, Hypertrophic cardiomyopathy, Middle Aged, medicine.disease, Cardiac surgery, Failure to Thrive, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Pulmonary valve stenosis, Cardiology, ras Proteins, business, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7daae994b50a5a9d1d9ed6d44d603b
http://hdl.handle.net/2318/1768177 -
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المؤلفون: Paolo Versacci, Giovanni Battista Ferrero, Roberto Formigari, Giuseppe Pacileo, Maria Cristina Digilio, Giuseppe Limongelli, Enrica De Luca, Jan Marek, Anwar Baban, Giulia Tuo, Sonia B. Albanese, Giuseppina Baldassarre, Daniela Messina, Maurizio Brighenti, Elena Banaudi, Ornella Milanesi, Bruno Dallapiccola, Juan Pablo Kaski, Bruno Marino, Maurizio Marasini, Marco Tartaglia, Giulio Calcagni, Maria Giovanna Russo, Gabriella Agnoletti, Angelo D’Ambrosio, Francesca Cairello, Francesco Gesualdo
المساهمون: Calcagni, Giulio, Limongelli, Giuseppe, D'Ambrosio, Angelo, Gesualdo, Francesco, Digilio, Maria Cristina, Baban, Anwar, Albanese, Sonia B., Versacci, Paolo, De Luca, Enrica, Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Russo, Maria Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno
المصدر: Data in Brief, Vol 16, Iss, Pp 649-654 (2018)
Data in Briefمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, RASopathy, lcsh:Computer applications to medicine. Medical informatics, Cardiofaciocutaneous syndrome, 01 natural sciences, 010104 statistics & probability, 03 medical and health sciences, Costello syndrome, medicine, 0101 mathematics, Young adult, lcsh:Science (General), Survival rate, Multidisciplinary, business.industry, Hypertrophic cardiomyopathy, Medicine and Dentistry, medicine.disease, PTPN11, 030104 developmental biology, lcsh:R858-859.7, Noonan syndrome, business, lcsh:Q1-390
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المؤلفون: Marco Tartaglia, Giovanni Battista Ferrero, Bruno Dallapiccola, Monia Magliozzi, Lorenzo Stella, Bruce D. Gelb, Giuseppina Baldassarre, Federica Consoli, Giovanni Sorge, Alessandro De Luca, Luca Pannone, Maria Accadia, Sigrid Tinschert, Christina Lissewski, Kadri Karaer, Massimiliano Anselmi, Francesca Pantaleoni, Cesare Rossi, Simone Martinelli, Silvia Delle Vigne, Elisabetta Flex, Maria Cristina Digilio, Gianfranco Bocchinfuso, Goran Cuturilo, Hélène Cavé, Giuseppe Zampino, Francesca Romana Lepri, Martin Zenker, Alessandro Sartorio
المصدر: Human Mutation. 38:451-459
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Protein domain, Protein tyrosine phosphatase, Biology, medicine.disease_cause, medicine.disease, PTPN11, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, Mutant protein, 030220 oncology & carcinogenesis, medicine, Noonan syndrome, Missense mutation, Genetics (clinical)
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المؤلفون: Diana Carli, Elisa Giorgio, Francesca Pantaleoni, Alessandro Bruselles, Sabina Barresi, Evelise Riberi, Francesco Licciardi, Andrea Gazzin, Giuseppina Baldassarre, Simone Pizzi, Marcello Niceta, Francesca C. Radio, Cristina Molinatto, Davide Montin, Pier L. Calvo, Andrea Ciolfi, Nicole Fleischer, Giovanni B. Ferrero, Alfredo Brusco, Marco Tartaglia
المصدر: Human Mutation. 40
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Giuseppe Antonio Mazza, Giuseppina Baldassarre, Giovanni Battista Ferrero, Elena Banaudi, Gabriella Agnoletti
مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.diagnostic_test, Adolescent, business.industry, Noonan Syndrome, MEDLINE, Arrhythmias, Cardiac, Arrhythmias, medicine.disease, Electrocardiography, Child, Echocardiography, Female, Humans, CARDIAC THERAPY, Internal medicine, Cardiology, Medicine, Noonan syndrome, Cardiology and Cardiovascular Medicine, business, Cardiac
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4643058d722418a9876c0057ce2f7a7b
http://hdl.handle.net/2318/1729531 -
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المؤلفون: Marcello Niceta, Giovanni Battista Ferrero, Francesca Clementina Radio, Alessandro Bruselles, Giuseppina Baldassarre, Pier Luigi Calvo, Francesco Licciardi, Nicole Fleischer, Davide Montin, Evelise Riberi, Sabina Barresi, Cristina Molinatto, Marco Tartaglia, Alfredo Brusco, Andrea Ciolfi, Elisa Giorgio, Andrea Gazzin, Simone Pizzi, Diana Carli, Francesca Pantaleoni
مصطلحات موضوعية: Male, media_common.quotation_subject, Facial profile, Nonsense, Biology, genotype-phenotype correlation, 03 medical and health sciences, Protein Domains, Loss of Function Mutation, Hypotelorism, Clinical information, Exome Sequencing, Genetics, medicine, Humans, Abnormalities, Multiple, NBAS, Child, Genotype-Phenotype Correlations, Genetics (clinical), Immunodeficiency, Genetic Association Studies, Silent Mutation, 030304 developmental biology, media_common, 0303 health sciences, splicing variant, 030305 genetics & heredity, acute liver failure, medicine.disease, Phenotype, Neoplasm Proteins, Pedigree, Hepatic Involvement, Child, Preschool, facial recognition technology, Female, face2gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852b46e0f73eb6375274ce5cf648a5f2
http://hdl.handle.net/2318/1694271 -
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المؤلفون: Donatella Milani, Daniela Melis, Andrea Riccio, Marina Macchiaiolo, Cristina Molinatto, Silvia Russo, Milena Mariani, Giovanni Battista Ferrero, Lidia Larizza, Luigi Tarani, Angelo Selicorni, Maria Francesca Bedeschi, A. de Crescenzo, Luciano Calzari, Andrea Freschi, Maria Vittoria Cubellis, Silvia Maitz, Andrea Bartuli, Giuseppina Baldassarre, Margherita Silengo, Alessandro Mussa
المصدر: Clinical Genetics. 90:21-27
مصطلحات موضوعية: 0301 basic medicine, Fetus, medicine.medical_specialty, Beckwith–Wiedemann syndrome, Gestational age, 030105 genetics & heredity, Biology, Anthropometry, medicine.disease, Uniparental disomy, 03 medical and health sciences, Endocrinology, Premature birth, Internal medicine, Genotype, Genetics, medicine, Gestation, Genetics (clinical)
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المؤلفون: Francesco Porta, Giuseppina Baldassarre, Alberto Ponzone, Vittorio Perduca, Daniele Farina, Alessandro Mussa, Marco Spada
المساهمون: Perduca, Vittorio, Dipartimento di Pediatria, Università degli studi di Torino (UNITO), Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Université Paris Descartes - Paris 5 (UPD5)-Institut National des Sciences Mathématiques et de leurs Interactions (INSMI)-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Torino ( UNITO ), Mathématiques Appliquées à Paris 5 ( MAP5 - UMR 8145 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National des Sciences Mathématiques et de leurs Interactions-Centre National de la Recherche Scientifique ( CNRS )
المصدر: European Journal of Pediatrics
European Journal of Pediatrics, Springer Verlag, 2015مصطلحات موضوعية: Adult, Epigenomics, Pediatrics, medicine.medical_specialty, Offspring, [ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Breastfeeding, Epigenetics, Lactation, Oxytocin receptor, Breast Feeding, Female, Humans, Italy, Pedigree, Prospective Studies, Pediatrics, Perinatology and Child Health, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 0302 clinical medicine, 030225 pediatrics, medicine, Prospective cohort study, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Hazard ratio, Odds ratio, Perinatology and Child Health, Confidence interval, medicine.anatomical_structure, business, Breast feeding, 030217 neurology & neurosurgery, Demography
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المؤلفون: Andrea Riccio, Flavia Cerrato, Giovanni Battista Ferrero, Alessandro Mussa, Cristina Molinatto, Orazio Palumbo, Clementina Peris, Giuseppina Baldassarre, Massimo Carella, Diana Carli
المساهمون: Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, Ferrero, Giovanni Battista
المصدر: Pediatrics (Glendale Calif.) 140 (2017). doi:10.1542/peds.2016-4311
info:cnr-pdr/source/autori:Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista/titolo:Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome./doi:10.1542%2Fpeds.2016-4311/rivista:Pediatrics (Glendale Calif.)/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume:140مصطلحات موضوعية: 0301 basic medicine, Infertility, Pediatrics, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Reproductive Techniques, Assisted, MEDLINE, Beckwith–Wiedemann syndrome, Risk Assessment, 03 medical and health sciences, Reproductive Techniques, 0302 clinical medicine, Retrospective Studie, Prevalence, medicine, Humans, Health risk, Retrospective Studies, 030219 obstetrics & reproductive medicine, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Newborn, medicine.disease, 030104 developmental biology, Increased risk, Assisted, Relative risk, Pediatrics, Perinatology and Child Health, Risk assessment, business, Human
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9f2eb95c74b07ecc3ee034759b72cb
https://doi.org/10.1542/peds.2016-4311
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