المؤلفون: Munck, Anne, Berger, Daria O., Southern, Kevin W., Carducci, Carla, de Winter-de Groot, Karin M., Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Proesmans, Marijke, Sands, Dorota, Sommerburg, Olaf, Castellani, Carlo, Barben, Jürg, Renner, Sabine, Zeyda, Max, de Wachter, Elke, Regal, Luc, Votava, Felix, Holubova, Andrea, Skov, Marianne, Morgan, Tessa, Bregeaut, Paul, O'Grady, Loretta, Bucci, Ines, Pantano, Stefano, Simonetti, Simonetta, De Venuto, Domenica, Salvatore, Donatello, Perrotti, Nicola, Caloiero, Mimma, Castaldo, Giuseppe, Tosco, Antonella, Righetti, Francesca, Pisi, Giovanna, Battistini, Fiorella, Angeloni, Antonio, Cimino, Giuseppe, Fiocchi, Giovanni, Angiolillo, Antonella, Cassanello, Michela, Alberti, Luisella, Claut, Laura E, Badolato, Raffaele, Pavanello, Enza, Fabrizzi, Benedetta, Bignamini, Elisabetta, Cardillo, Anna, Lombardo, Mariangela, Cocciadiferro, Letizia, Termini, Lisa, Dolce, Daniela, Terlizzi, Vito, Tamanini, Anna, Pauro, Francesca, la Marca, Giancarlo, Aleksejeva, Elina, Gaidule-Logina, Dita, Fustik, Stoika, Anastasovska, Violeta, Bouva, Marelle, Reid, Alastair, Cundick, Jennifer, Lundman, Emma, Bakkeheim, Egil, Zybert, Katarzyna, Oltarzewski, Mariusz, Vilarinho, Laura, Sherman, Victoria, Kondratyeva, Elena, Smith, Sarah, Dautovic, Gordana Vilotijevic, Knapkova, Maria, Mydlova, Zuzana, López, Rosa M., Velasco, Valle, Flores, Felicitas Díaz, Mejeras, Cristóbal Colón, Pedersen, Eva S.L., Ozcelik, Ugur, Karadag, Bulent, Makukh, Halyna, Stuart, Moat

مصطلحات موضوعية: CFSPID, Carriers, CFTR Gene Analysis, Cystic Fibrosis, IRT, Newborn Bloodspot Screening, PAP, Doenças Genéticas

العلاقة: https://www.sciencedirect.com/science/article/pii/S1569199322006890?via%3DihubTest; J Cyst Fibros. 2022 Nov 10;S1569-1993(22)00689-0. doi:10.1016/j.jcf.2022.09.012. Online ahead of print.; http://hdl.handle.net/10400.18/8589Test

الإتاحة: https://doi.org/10.1016/j.jcf.2022.09.012Test
http://hdl.handle.net/10400.18/8589Test

المؤلفون: D'Amato, Gabriele, Brescia, Vincenzo, Fontana, Antonietta, Natale, Maria Pia, Lovero, Roberto, Varraso, Lucia, Di Serio, Francesca, Simonetti, Simonetta, Muggeo, Paola, Faienza, Maria Felicia

المصدر: Biomedicines; Jun2024, Vol. 12 Issue 6, p1271, 16p

مصطلحات موضوعية: BONE metabolism, METABOLIC bone disorders, NEWBORN infants, CORD blood, PREMATURE infants

المؤلفون: Diana, Anna, Polizzi, Angela Maria, De Luisi, Annunziata, Pantaleo, Maria Giuseppina, Leonetti, Giuseppina, Simonetti, Simonetta, Bukvic, Nenad, Iacoviello, Matteo, Bucci, Roberta, Gentile, Mattia, Resta, Nicoletta

المساهمون: Diana, Anna, Polizzi, Angela Maria, De Luisi, Annunziata, Pantaleo, Maria Giuseppina, Leonetti, Giuseppina, Simonetti, Simonetta, Bukvic, Nenad, Iacoviello, Matteo, Bucci, Roberta, Gentile, Mattia, Resta, Nicoletta

مصطلحات موضوعية: copy number variations

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38320874; journal:JOURNAL OF CYSTIC FIBROSIS; https://hdl.handle.net/11586/465009Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85184030613

الإتاحة: https://doi.org/10.1016/j.jcf.2024.01.013Test
https://hdl.handle.net/11586/465009Test

المؤلفون: Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ines, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, MariaAnna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola

المساهمون: Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ine, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, Mariaanna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola

مصطلحات موضوعية: aminoacidemia, fatty acid oxidation disorder, inborn errors of metabolism, newborn screening, organic acidemia, tandem mass spectrometry, urea cycle defects

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35997437; info:eu-repo/semantics/altIdentifier/wos/WOS:000857740800001; volume:8; issue:3; firstpage:47; journal:INTERNATIONAL JOURNAL OF NEONATAL SCREENING; http://hdl.handle.net/11573/1653346Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138652591

الإتاحة: https://doi.org/10.3390/ijns8030047Test
http://hdl.handle.net/11573/1653346Test

المؤلفون: Tummolo, Albina, Leone, Piero, Tolomeo, Maria, Solito, Rita, Mattiuzzo, Matteo, Lepri, Francesca Romana, Lorè, Tania, Cardinali, Roberta, De Giovanni, Donatella, Simonetti, Simonetta, Barile, Maria

المصدر: JIMD Reports ; volume 63, issue 4, page 276-291 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12292Test

المؤلفون: Simonetti, Simonetta, D’Amato, Gabriele, Esposito, Benedetta, Chiarito, Mariangela, Dentico, Domenico, Lorè, Tania, Cardinali, Roberta, Russo, Silvia, Laforgia, Nicola, Faienza, Maria Felicia

المصدر: Italian Journal of Pediatrics ; volume 48, issue 1 ; ISSN 1824-7288

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1186/s13052-022-01328-0Test

المؤلفون: Forte, Giovanna, Buonadonna, Antonia Lucia, Pantaleo, Antonino, Fasano, Candida, Capodiferro, Donatella, Grossi, Valentina, Sanese, Paola, Cariola, Filomena, De Marco, Katia, Lepore Signorile, Martina, Manghisi, Andrea, Guglielmi, Anna Filomena, Simonetti, Simonetta, Laforgia, Nicola, Disciglio, Vittoria, Simone, Cristiano

المصدر: International Journal of Molecular Sciences; Dec2023, Vol. 24 Issue 24, p17388, 12p

مصطلحات موضوعية: MISSENSE mutation, LITERATURE reviews, GALACTOSEMIA, GENETIC variation, METABOLIC disorders

المؤلفون: Tummolo, Albina, Carella, Rosa, De Giovanni, Donatella, Paterno, Giulia, Simonetti, Simonetta, Tolomeo, Maria, Leone, Piero, Barile, Maria

المصدر: International Journal of Molecular Sciences; Dec2023, Vol. 24 Issue 23, p17024, 21p

مصطلحات موضوعية: DEFICIENCY diseases, METABOLIC disorders, MICRONUTRIENTS, FATTY acid oxidation, DIET, CARBOHYDRATE metabolism

المؤلفون: Delvecchio, Maurizio, Rapone, Biagio, Simonetti, Simonetta, Fecarotta, Simona, De Carlo, Graziana, Favoino, Elvira, Loverro, Maria Teresa, Romano, Anna Maria Isdraele, Taurino, Federica, Di Naro, Edoardo, Gnoni, Antonio

المصدر: Italian Journal of Pediatrics ; volume 46, issue 1 ; ISSN 1824-7288

الإتاحة: https://doi.org/10.1186/s13052-020-00924-2Test

المؤلفون: Rinonapoli, Giuseppe, Ceccarini, Paolo, Manfreda, Francesco, Talesa, Giuseppe Rocco, Simonetti, Simonetta, Caraffa, Auro

المصدر: Healthcare (2227-9032); Oct2023, Vol. 11 Issue 19, p2638, 13p

مصطلحات موضوعية: HAND physiology, TORSO physiology, SHOULDER pain, NECK pain, SCIENTIFIC observation, OLDER athletes, ROTATIONAL motion, DESCRIPTIVE statistics, SWIMMING, DATA analysis software, BIOMECHANICS, VIDEO recording