يعرض 1 - 10 نتائج من 101 نتيجة بحث عن '"Furlan, Francesca"', وقت الاستعلام: 1.28s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

    المؤلفون: Ronchi, DarioAff1, Aff2, Garbellini, Manuela, Magri, Francesca, Menni, Francesca, Meneri, MegiAff1, Aff2, Bedeschi, Maria Francesca, Dilena, Robertino, Cecchetti, Valeria, Picciolli, Irene, Furlan, Francesca, Polimeni, Valentina, Salani, Sabrina, Pezzoli, Laura, Fortunato, Francesco, Bellini, Matteo, Piga, Daniela, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Sciacco, Monica, Mangili, Giovanna, Mosca, FabioAff6, Aff10, Corti, StefaniaAff1, Aff8, Iascone, Maria, Comi, Giacomo PietroAff1, Aff2, IDs41431023014336_cor26

    المصدر: European Journal of Human Genetics. 31(12):1414-1420

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  2. 2
    دورية أكاديمية
    Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report

    المؤلفون: Cattaneo, Valentina, Caccioppola, Alessio, Colombo, Sebastiano Maria, Scaravilli, Vittorio, Tubiolo, Daniela, Crotti, Stefania, Bosone, Marco, Rafaniello Raviele, Paola, Olmeda, Edoardo, Menni, Francesca, Furlan, Francesca, Rossetti, Valeria, Damarco, Francesco, Panigada, Mauro, Grasselli, Giacomo

    المصدر: In Transplantation Proceedings October 2023 55(8):1991-1994

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  3. 3
    دورية أكاديمية
    PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

    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, GiancarloAff10, Aff11, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, RenzoAff1, Aff14, Guéant, Jean-Louis, Morrone, AmeliaAff1, Aff14, IDs13148021011172_cor23

    المصدر: Clinical Epigenetics. 13(1)

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  4. 4
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  5. 5
    دورية أكاديمية
    A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

    المؤلفون: Furlan, FrancescaAff1, Aff2, Rovelli, AttilioAff2, Rigoldi, MiriamAff3, Filocamo, MirellaAff4, Tappino, BarbaraAff4, Friday, DouglasAff5, Gasperini, SerenaAff2, Mariani, SilvanaAff6, Izzi, ClaudiaAff7, Bondioni, Maria PiaAff8, Gellera, CinziaAff9, Venerando, AnnaAff9, Villa, NicolettaAff3, del Carmen Rodriguez Perez, MariaAff10, Pavan, FabioAff2, Biondi, AndreaAff2, Parini, RossellaAff2, Aff11

    المصدر: Italian Journal of Pediatrics. 44(Suppl 2)

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  6. 6
    دورية أكاديمية
    The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

    المؤلفون: Del Rizzo, Monica, Galderisi, Alfonso, Celato, Andrea, Furlan, Francesca, Giordano, Laura, Cazzorla, Chiara, Fasan, Ilaria, Moretti, Carlo, Zschocke, Johannes, Burlina, Alberto B.

    المصدر: European Journal of Pediatrics. August 2016 175(8):1123-1128

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  7. 7
    دورية أكاديمية
    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    المؤلفون: Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1041-1057

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  8. 8
    دورية أكاديمية
    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1059-1074

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  9. 9
    دورية
    A biallelic variant in COX18cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

    المؤلفون: Ronchi, Dario, Garbellini, Manuela, Magri, Francesca, Menni, Francesca, Meneri, Megi, Bedeschi, Maria Francesca, Dilena, Robertino, Cecchetti, Valeria, Picciolli, Irene, Furlan, Francesca, Polimeni, Valentina, Salani, Sabrina, Pezzoli, Laura, Fortunato, Francesco, Bellini, Matteo, Piga, Daniela, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Sciacco, Monica, Mangili, Giovanna, Mosca, Fabio, Corti, Stefania, Iascone, Maria, Comi, Giacomo Pietro

    المصدر: European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-7, 7p

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  10. 10
    Additional file 1 of PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

    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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0722c77e3449ad1d9afec727c356b894

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