المؤلفون: Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro^{Aff4, Aff5}, Santalla, Alfredo^{Aff5, Aff6}, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V., Laforêt, Pascal, Millán, Beatriz San^{Aff11, Aff12}, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C.^{Aff1, IDs1302302302825z_cor28}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Ivanov, Borko^Aff3, Djordjevic, Ilija^Aff3

المساهمون: Sabashnikov, Anton, editor^Aff1, Wahlers, Thorsten, editor^Aff2

المصدر: ECMO Retrieval Program Foundation. :231-240

المؤلفون: Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: McArdle disease, Glycogen storage disease V, Rare diseases, International registry, Health care, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8

المؤلفون: Gaggiano, Carla, Maselli, Anna, Sfikakis, Petros P., Laskari, Katerina, Ragab, Gaafar^{Aff4, Aff5}, Hegazy, Mohamed Tharwat^{Aff4, Aff5}, Laymouna, Ahmed Hatem, Lopalco, Giuseppe, Almaghlouth, Ibrahim A.^{Aff7, Aff8}, Asfina, Kazi Nur, Alahmed, Ohoud, Giardini Mayrink, Henrique Ayres, Parente de Brito Antonelli, Isabele, Cattalini, Marco, Piga, Matteo, Sota, Jurgen, Gentileschi, Stefano, Maggio, Maria Cristina, Opris-Belinski, Daniela, Hatemi, Gülen^{Aff16, Aff17}, Insalaco, Antonella, Olivieri, Alma Nunzia, Tufan, Abdurrahman, Karadeniz, Hazan, Kardaş, Riza Can, La Torre, Francesco, Cardinale, Fabio, Marino, Achille, Guerriero, Silvana, Ruscitti, Piero, Tarsia, Maria, Vitale, Antonio, Caggiano, Valeria, Telesca, Salvatore, Iannone, Florenzo, Parretti, Veronica, Frassi, Micol, Aragona, Emma, Ciccia, Francesco, Wiesik-Szewczyk, Ewa, Ionescu, Ruxandra, Şahin, Ali, Akkoç, Nurullah, Hinojosa-Azaola, Andrea, Tharwat, Samar, Hernández-Rodríguez, José, Espinosa, Gerard, Conti, Giovanni, Del Giudice, Emanuela, Govoni, Marcello, Emmi, Giacomo^{Aff39, Aff40}, Fabiani, Claudia, Balistreri, Alberto, Frediani, Bruno, Rigante, Donato^{Aff43, Aff44}, Cantarini, Luca^{Aff1, IDs1173902303215w_cor56}

المصدر: Internal and Emergency Medicine: Official Journal of the Italian Society of Internal Medicine. 18(3):743-754

المؤلفون: Sampurno, Fanny, Cally, Justin, Opie, Jacinta L, Kannan, Ashwini, Millar, Jeremy L, Finelli, Antonio, Vickers, Andrew J, Moore, Caroline M, Kowalski, Christoph, Foster, Claire, Barocas, Dan A, Galvin, David, Van Basten, Jean-Paul, Gore, John L, Ferencz, Julia, Lawson, Keith A, Ghani, Khurshid R, Kwan, Lorna, Saarela, Olli, Connor, Sarah E, Dieng, Sebastian, Linsell, Susan, Soeterik, Timo FW, Villanti, Paul, Litwin, Mark S, Evans, Sue M

المصدر: Health Informatics Journal. 27(2)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Generic health relevance, Benchmarking, Delivery of Health Care, Humans, Male, Quality Indicators, Health Care, Registries, Surveys and Questionnaires, international registry, benchmarking, data display, data science, quality indicators, R Markdown, Information Systems, Library and Information Studies, Medical Informatics, Health services and systems, Applied computing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/690500t9

المؤلفون: Vitale, Antonio, Della Casa, Francesca, Ragab, Gaafar^{Aff3, Aff4}, Almaghlouth, Ibrahim A.^{Aff5, Aff6}, Lopalco, Giuseppe, Pereira, Rosa Maria, Guerriero, Silvana, Govoni, Marcello, Sfikakis, Petros P., Giacomelli, Roberto, Ciccia, Francesco, Monti, Sara, Ruscitti, Piero, Piga, Matteo, Lomater, Claudia, Tufan, Abdurrahman, Opris-Belinski, Daniela, Emmi, Giacomo, Hernández-Rodríguez, José, Şahin, Ali, Sebastiani, Gian Domenico, Bartoloni, Elena, Akkoç, Nurullah, Gündüz, Özgül Soysal, Cattalini, Marco, Conti, Giovanni, Hatemi, Gulen, Maier, Armin, Parronchi, Paola, Del Giudice, Emanuela, Erten, Sukran, Insalaco, Antonella, Li Gobbi, Francesca, Maggio, Maria Cristina, Shahram, Farhad, Caggiano, Valeria, Hegazy, Mohamed Tharwat^{Aff3, Aff4}, Asfina, Kazi Nur, Morrone, Maria, Prado, Leandro L., Dammacco, Rosanna, Ruffilli, Francesca, Arida, Aikaterini, Navarini, Luca, Pantano, Ilenia, Cavagna, Lorenzo, Conforti, Alessandro, Cauli, Alberto, Marucco, Elena Maria, Kucuk, Hamit, Ionescu, Ruxandra, Mattioli, Irene, Espinosa, Gerard, Araújo, Olga, Karkaş, Burak, Canofari, Claudia, Sota, Jurgen, Laymouna, Ahmed Hatem, Bedaiwi, Asma. A., Colella, Sergio, Giardini, Henrique Ayres M., Albano, Valeria, Lo Monaco, Andrea, Fragoulis, George E., Kardas, Riza Can, Berlengiero, Virginia, Hussein, Mohamed A., Ricci, Francesca, La Torre, Francesco, Rigante, Donato^{Aff37, Aff38}, Więsik-Szewczyk, Ewa, Frassi, Micol, Gentileschi, Stefano, Tosi, Gian Marco, Dagostin, Marilia Ambiel, Mahmoud, Ayman Abdel-Monem Ahmed, Tarsia, Maria, Alessio, Giovanni, Cimaz, Rolando, Giani, Teresa, Gaggiano, Carla, Iannone, Florenzo, Cipriani, Paola, Mourabi, Mariam, Spedicato, Veronica, Barneschi, Sara, Aragona, Emma, Balistreri, Alberto, Frediani, Bruno, Fabiani, Claudia, Cantarini, Luca^{Aff1, IDs11739022030381_cor91}

المصدر: Internal and Emergency Medicine: Official Journal of the Italian Society of Internal Medicine. 17(7):1977-1986

المؤلفون: Allard, Marc Antoine^Aff4, Cailliez, Valérie^Aff4, Chibaudel, Benoist^Aff5, de Gramont, Aimery^Aff5, Adam, René^Aff4

المساهمون: Vauthey, Jean-Nicolas, editor^Aff1, Kawaguchi, Yoshikuni, editor^Aff2, Adam, René, editor^Aff3

المصدر: Colorectal Liver Metastasis. :549-556

المؤلفون: Casa, Francesca Della, Vitale, Antonio, Guerriero, Silvana, Sota, Jurgen, Cimaz, Rolando, Ragab, Gaafar^{Aff5, Aff6}, Ruscitti, Piero, Pereira, Rosa Maria R., Minoia, Francesca, Del Giudice, Emanuela, Emmi, Giacomo, Lomater, Claudia, Monti, Sara^{Aff13, Aff14}, Canofari, Claudia, Gaggiano, Carla, Alessio, Giovanni, Miserocchi, Elisabetta, Conforti, Alessandro, Dagostin, Marilia A., Mapelli, Chiara, Paroli, Maria Pia, Parretti, Veronica, Albano, Valeria, Favale, Rosa, Marelli, Luca, Hegazy, Mohamed Tharwat^{Aff5, Aff6}, Cipriani, Paola, Antonelli, Isabele P. B., Caggiano, Valeria, Aragona, Emma, Laymouna, Ahmed Hatem, Tosi, Gian Marco, Tarsia, Maria, Cattalini, Marco, La Torre, Francesco, Lopalco, Giuseppe, Więsik-Szewczyk, Ewa, Frassi, Micol, Gentileschi, Stefano, Giordano, Heitor F., Frediani, Bruno, Shinjo, Samuel K., Rigante, Donato^{Aff27, Aff28}, Sfikakis, Petros P., Balistreri, Alberto, Hussein, Mohamed A., Amin, Rana Hussein, Cantarini, Luca^{Aff2, IDs40123022004591_cor48}, Fabiani, Claudia

المصدر: Ophthalmology and Therapy. 11(2):899-911

المؤلفون: Della Casa, Francesca, Vitale, Antonio, Pereira, Rosa Maria, Guerriero, Silvana, Ragab, Gaafar^{Aff5, Aff6}, Lopalco, Giuseppe, Cattalini, Marco, Mattioli, Irene, Parronchi, Paola, Paroli, Maria Pia, Del Giudice, Emanuela, Gaggiano, Carla, Dagostin, Marília A., Albano, Valeria, Soliman, Mahmoud M., Colella, Sergio, Nascimbeni, Giuseppe, Sota, Jurgen, Antonelli, Isabele P. B., Alessio, Giovanni, Caggiano, Valeria, Tufan, Abdurrahman, Amin, Rana Hussein, Tarsia, Maria, Ghanema, Mahmoud, Iannone, Florenzo, Ricci, Francesca, La Torre, Francesco, Więsik-Szewczyk, Ewa, Conticini, Edoardo, Gentileschi, Stefano, Dammacco, Rosanna, Cimaz, Rolando, Frediani, Bruno, Abbruzzese, Anna, Ruscitti, Piero, Tosi, Gian Marco, Giordano, Heitor F., Conforti, Alessandro, Balistreri, Alberto, Rigante, Donato^{Aff22, Aff23}, Cantarini, Luca^{Aff2, IDs40123022004662_cor42}, Fabiani, Claudia

المصدر: Ophthalmology and Therapy. 11(2):887-897

المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri

المصدر: Journal of Inherited Metabolic Disease. 42(1)

مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5h73x4jb