المؤلفون: Abiusi, Emanuela, Vaisfeld, Alessandro, Fiori, Stefania, Novelli, Agnese, Spartano, Serena, Faggiano, Maria Vittoria, Giovanniello, Teresa, Angeloni, Antonio, Vento, Giovanni, Santoloci, Roberta, Gigli, Francesca, D'Amico, Adele, Costa, Simonetta, Porzi, Alessia, Panella, Mara, Ticci, Chiara, Daniotti, Marta, Sacchini, Michele, Boschi, Ilaria, Dani, Carlo, Agostiniani, Rino, Bertini, Enrico, Lanzone, Antonio, Lamarca, Giancarlo, Genuardi, Maurizio, Pane, Marika, Donati, Maria Alice, Mercuri, Eugenio, Tiziano, Francesco Danilo, on behalf of the Italian SMA-NBS group, Accardo, Maria, Gambi, Beatrice, Giampaoli, Simonetta, Ahmed, Ubah Farah, Giannini, Carlo, Alecci, Concetta, Giardini, Valerio, Amendolea, Antonella, Guarguagli, Monica, Bartolucci, Monica, Haass, Cristina, Belisario, Ivana, Innocenti, Isabella, Belluomini, Paola, Innocenti Berti, Maria Cristina, Bernardini, Claudia, Maggi, Claudia, Bernardini, Roberto, Magi, Letizia, Bertò, Luisa, Malorgio, Roccuccia, Bini, Rita, Maragliano, Giovanna, Bolgia, Leonardo, Maraglino, Vita, Boscioni, Mario, Marotta, Anna, Bracaglia, Giorgio, Martini, Cristina, Brachini, Elisa, Martufi, Palmina, Bruschi, Elisa, Mastropasqua, Stefania, Campa, Monica, Matera, Maria Rosaria, Caprilli, Monica, Memmini, Graziano, Carcione, Simona, Mendicino, Angela, Cardiello, Angelo, Mercurio, Sabrina, Cartolano, Francesco, Meucci, Alessandra, Casati, Alessandra, Milita, Osvaldo, Ceccarelli, Sandra, Morano, Zeudi, Chiellini, Marzia, Nardi, Eleonora, Ciccotti, Rossella, Novelli, Sandra, Cioli, Elena, Padovano, Luigi, Civitelli, Flavio, Palermo, Maria Gabriella, Colella, Maria Giovanna, Pascucci, Serena, Coppotelli, Luigina, Patrizia, Caterini, Crescenzi, Francesco, Percoco, Assunta, Petrolati, Stefania, Danieli, Roberto, Pitaro, Rosanna, Angelis, Tamara De, Raponi, Marilena, Martinis, Mauro De, Riccobene, Francesco, degl’Innocenti, Elena, Rosa, Giovanni, Sette, Laura Del, Roversi, Amanda, Paolo, Ambrogio Di, Sadocco, Sabrina, Ruzza, Luigi Di, Santarelli, Emanuela, Silvio, Rosalia Di, Tafi, Luca, Francesco, Dituri, Tomasini, Barbara, Egho, Gwenna, Traupe, Martha, Emili, Daniela, Vaccaro, Angelina, Filippo, Luca, Vasarri, Pierluigi, Foglia, Claudia, Ventura, Valentina, Gabriellini, Francesco, Vitale, Stefano, Gagliardi, Luigi, Zingoni, Anna Maria, Gallo, Annamaria

مصطلحات موضوعية: Screening

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/60/7/697Test; http://dx.doi.org/10.1136/jmg-2022-108873Test

الإتاحة: https://doi.org/10.1136/jmg-2022-108873Test
http://jmg.bmj.com/cgi/content/short/60/7/697Test

المؤلفون: Montomoli, Martino, Vetro, Annalisa, Tubili, Flavia, Donati, Maria Alice, Daniotti, Marta, Pochiero, Francesca, Rivieri, Francesca, Girlando, Salvatore, Guerrini, Renzo

المصدر: European Journal of Medical Genetics ; volume 66, issue 8, page 104808 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104808Test
https://api.elsevier.com/content/article/PII:S1769721223001143?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721223001143?httpAccept=text/plainTest

المؤلفون: Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, La Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria, Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia

المساهمون: Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Naples Federico II = Università degli studi di Napoli Federico II, Azienda Ospedaliero-Universitaria Policlinico “Gaspare Rodolico”, Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute Milan, Meyer Children's Hospital Florence, Italie, Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://hal.sorbonne-universite.fr/hal-03278520Test ; Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩.

مصطلحات موضوعية: Secondary epimutation, Promoter hypermethylation, CpG island, Methylmalonic aciduria and homocystinuria, cblC type, cblC disease, Epi-cblC, Expanded newborn screening (NBS), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34215320; hal-03278520; https://hal.sorbonne-universite.fr/hal-03278520Test; https://hal.sorbonne-universite.fr/hal-03278520/documentTest; https://hal.sorbonne-universite.fr/hal-03278520/file/s13148-021-01117-2.pdfTest; PUBMED: 34215320; PUBMEDCENTRAL: PMC8254308; WOS: 000669202600001

الإتاحة: https://doi.org/10.1186/s13148-021-01117-2Test
https://hal.sorbonne-universite.fr/hal-03278520Test
https://hal.sorbonne-universite.fr/hal-03278520/documentTest
https://hal.sorbonne-universite.fr/hal-03278520/file/s13148-021-01117-2.pdfTest

المؤلفون: Malvagia, Sabrina, Ferri, Lorenzo, Della Bona, Maria, Borsini, Walter, Cirami, Calogero Lino, Dervishi, Egrina, Feriozzi, Sandro, Gasperini, Serena, Motta, Serena, Mignani, Renzo, Trezzi, Barbara, Pieruzzi, Federico, Morrone, Amelia, Daniotti, Marta, Donati, Maria Alice, la Marca, Giancarlo

المساهمون: AIAF, Italian Anderson-Fabry Disease Association Onlus

المصدر: Clinical Chemistry and Laboratory Medicine (CCLM) ; volume 59, issue 9, page 1516-1526 ; ISSN 1434-6621 1437-4331

الإتاحة: https://doi.org/10.1515/cclm-2021-0316Test

المؤلفون: Lastrucci, Elisa, Daniotti, Marta, Procopio, Elena, Scaturro, Giusi, Tubili, Flavia, Martin, Rosanna, la Marca, Giancarlo

المصدر: International Journal of Neonatal Screening (IJNS); Sep2023, Vol. 9 Issue 3, p38, 10p

المؤلفون: Abiusi, Emanuela, Vaisfeld, Alessandro, Fiori, Stefania, Novelli, Agnese, Spartano, Serena, Faggiano, Maria Vittoria, Giovanniello, Teresa, Angeloni, Antonio, Vento, Giovanni, Santoloci, Roberta, Gigli, Francesca, D'Amico, Adele, Costa, Simonetta, Porzi, Alessia, Panella, Mara, Ticci, Chiara, Daniotti, Marta, Sacchini, Michele, Boschi, Ilaria, Bertini, Enrico, Lanzone, Antonio, Lamarca, Giancarlo, Genuardi, Maurizio, Pane, Marika, Donati, Maria Alice, Mercuri, Eugenio, Tiziano, Francesco Danilo

المساهمون: Abiusi, Emanuela, Vaisfeld, Alessandro, Fiori, Stefania, Novelli, Agnese, Spartano, Serena, Faggiano, Maria Vittoria, Giovanniello, Teresa, Angeloni, Antonio, Vento, Giovanni, Santoloci, Roberta, Gigli, Francesca, D'Amico, Adele, Costa, Simonetta, Porzi, Alessia, Panella, Mara, Ticci, Chiara, Daniotti, Marta, Sacchini, Michele, Boschi, Ilaria, Bertini, Enrico, Lanzone, Antonio, Lamarca, Giancarlo, Genuardi, Maurizio, Pane, Marika, Donati, Maria Alice, Mercuri, Eugenio, Tiziano, Francesco Danilo

مصطلحات موضوعية: Genetic Testing, Genetics, Population, Neonatal Screening, Neuromuscular Diseases

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36414255; volume:60; firstpage:697; lastpage:705; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11585/969057Test

الإتاحة: https://doi.org/10.1136/jmg-2022-108873Test
https://hdl.handle.net/11585/969057Test

المؤلفون: Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0722c77e3449ad1d9afec727c356b894Test

المؤلفون: Filippi Luca, Fiorini Patrizio, Daniotti Marta, Catarzi Serena, Savelli Sara, Fonda Claudio, Bartalena Laura, Boldrini Antonio, Giampietri Matteo, Scaramuzzo Rosa, Papoff Paola, Del Balzo Francesca, Spalice Alberto, la Marca Giancarlo, Malvagia Sabrina, Della Bona Maria, Donzelli Gianpaolo, Tinelli Francesca, Cioni Giovanni, Pisano Tiziana, Falchi Melania, Guerrini Renzo

المصدر: BMC Pediatrics, Vol 12, Iss 1, p 144 (2012)

مصطلحات موضوعية: Neonatal hypoxic-ischemic encephalopathy, Therapeutic hypothermia, Topiramate, Pediatrics, RJ1-570

العلاقة: http://www.biomedcentral.com/1471-2431/12/144Test; https://doaj.org/toc/1471-2431Test; https://doaj.org/article/ae24ab46fc474f41ae1ec03c435b7039Test

الإتاحة: https://doi.org/10.1186/1471-2431-12-144Test
https://doaj.org/article/ae24ab46fc474f41ae1ec03c435b7039Test

المؤلفون: Filippi, Luca, Fiorini, Patrizio, la Marca, Giancarlo, Daniotti, Marta

المصدر: International Journal of General Medicine ; page 21 ; ISSN 1178-7074

الإتاحة: https://doi.org/10.2147/ijgm.s10490Test
https://www.dovepress.com/getfile.php?fileID=8500Test

المؤلفون: Isacchi Benedetta, Furlanetto Sandra, Bilia Anna, Monte Massimo, Ristori Chiara, Bagnoli Paola, Malvagia Sabrina, Marca Giancarlo, Fortunato Pina, Pollazzi Liliana, Torre Agostino, Ramenghi Luca, Araimo Gabriella, Cristofori Gloria, Benedetti Valentina, Daniotti Marta, Fiorini Patrizio, Cavallaro Giacomo, Filippi Luca, Tinelli Francesca, Cioni Giovanni, Donzelli Gianpaolo, Osnaghi Silvia, Mosca Fabio

المصدر: BMC Pediatrics, Vol 10, Iss 1, p 83 (2010)

مصطلحات موضوعية: Pediatrics, RJ1-570

العلاقة: http://www.biomedcentral.com/1471-2431/10/83Test; https://doaj.org/toc/1471-2431Test; https://doaj.org/article/f668d1d2c5224149b9aa1a7cc5971854Test

الإتاحة: https://doi.org/10.1186/1471-2431-10-83Test
https://doaj.org/article/f668d1d2c5224149b9aa1a7cc5971854Test