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1دورية أكاديمية
المؤلفون: Biancheri, Roberta, Severino, Mariasavina, Robbiano, Angela, Iacomino, Michele, Del Sette, Massimo, Minetti, Carlo, Cervasio, Mariarosaria, Del Basso De Caro, Marialaura, Striano, Pasquale, Zara, Federico
المصدر: Neurology Genetics ; volume 2, issue 3 ; ISSN 2376-7839 2376-7839
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2دورية أكاديمية
المؤلفون: Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robinson, Wendy P, Wasserman, Wyeth W, Rossi, Andrea, van Karnebeek, Clara D
المساهمون: Child and Family Research Institute
مصطلحات موضوعية: Intellectual disability, Epileptic encephalopathy, Hypotonia, Dysmorphism, Multi-organ involvement, Genomics, Intramyelin edema, Glycosylphosphatidylinositol, Lipoprotein lipase, Alkaline phosphatase, Iron
العلاقة: Orphanet Journal of Rare Diseases. 2015 Feb 27;10(1):23; http://hdl.handle.net/2429/56064Test
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3دورية أكاديمية
المؤلفون: Siri, Laura, Rossi, Andrea, Lanza, Federica, Mazzotti, Raffaella, Costa, Anna, Stroppiano, Marina, Gaiero, Alberto, Cohen, Amnon, Biancheri, Roberta, Filocamo, Mirella
مصطلحات موضوعية: FP7, European Commission, EC, Health, SP1-Cooperation
الإتاحة: https://doi.org/10.1007/s10048-014-0390-4Test
https://www.openaccessrepository.it/record/21902Test -
4دورية أكاديمية
المؤلفون: Filocamo, Mirella, Mazzotti, Raffaella, Corsolini, Fabio, Stroppiano, Marina, Stroppiana, Giorgia, Grossi, Serena, Lualdi, Susanna, Tappino, Barbara, Lanza, Federica, Galotto, Sara, Biancheri, Roberta
المصدر: Open Journal of Bioresources; Vol. 1 (2014); e2 ; 2056-5542
مصطلحات موضوعية: biobanking, biological resources centre, biospecimens, rare diseases, cryopreservation
وصف الملف: application/xml; application/pdf
العلاقة: https://account.openbioresources.metajnl.com/index.php/up-j-ojb/article/view/ojb.ab/3Test; https://account.openbioresources.metajnl.com/index.php/up-j-ojb/article/view/ojb.ab/4Test; https://account.openbioresources.metajnl.com/index.php/up-j-ojb/article/view/ojb.abTest
الإتاحة: https://doi.org/10.5334/ojb.abTest
https://account.openbioresources.metajnl.com/index.php/up-j-ojb/article/view/ojb.abTest -
5دورية أكاديمية
المؤلفون: Biancheri, Roberta, Mancardi, Maria Margherita, Celle, Maria Elena, Nardo, Tiziana, Morana, Giovanni
المصدر: Neurology ; volume 83, issue 17, page 1581-1581 ; ISSN 0028-3878 1526-632X
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6دورية أكاديمية
المؤلفون: Santorelli Filippo Maria, Garavaglia Barbara, Cardona Francesco, Nardocci Nardo, Bernardina Bernardo Dalla, Sartori Stefano, Suppiej Agnese, Bertini Enrico, Claps Dianela, Battini Roberta, Biancheri Roberta, Filocamo Mirella, Pezzini Francesco, Simonati Alessandro
المصدر: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 19 (2013)
مصطلحات موضوعية: Childhood NCL, NCL Genes, Epidemiology, Italy, Medicine
العلاقة: http://www.ojrd.com/content/8/1/19Test; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/8e74adf9acf94006a8ea22448afda1b1Test
الإتاحة: https://doi.org/10.1186/1750-1172-8-19Test
https://doaj.org/article/8e74adf9acf94006a8ea22448afda1b1Test -
7دورية أكاديمية
المؤلفون: Gazzerro, Elisabetta, Baldassari, Simona, Giacomini, Caterina, Musante, Veronica, Fruscione, Floriana, La Padula, Veronica, Biancheri, Roberta, Scarfì, Sonia, Prada, Valeria, Sotgia, Federica, Duncan, Ian D, Zara, Federico, Werner, Hauke B, Lisanti, Michael P, Nobbio, Lucilla, Corradi, Anna, Minetti, Carlo
المصدر: Kimmel Cancer Center Faculty Papers
مصطلحات موضوعية: Department of Cancer Biology, Kimmel Cancer Center, Stem Cell Biology and Regenerative Medicine Center, Thomas Jefferson University, Adolescent, Adult, Brain/pathology, Cataract/congenital, Cataract/diagnosis, Child, Preschool, Female, Hereditary Central Nervous System Demyelinating Diseases/congenital, Hereditary Central Nervous System Demyelinating Diseases/diagnosis, Humans, Image Enhancement/methods, Magnetic Resonance Imaging/methods, Male, Nerve Fibers, Myelinated/pathology, Retrospective Studies, Syndrome, Medical Neurobiology
وصف الملف: application/pdf
العلاقة: https://jdc.jefferson.edu/kimmelccfp/19Test; https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1018&context=kimmelccfpTest
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8دورية أكاديمية
المؤلفون: Biancheri, Roberta, Rosano, Camillo, Denegri, Laura, Lamantea, Eleonora, Pinto, Francesca, Lanza, Federica, Severino, Mariasavina, Filocamo, Mirella
المصدر: European Journal of Human Genetics ; volume 21, issue 1, page 34-39 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/ejhg.2012.93Test
http://www.nature.com/articles/ejhg201293.pdfTest
http://www.nature.com/articles/ejhg201293Test -
9دورية أكاديمية
المؤلفون: Mirabelli-Badenier, Marisol, Morana, Giovanni, Pinto, Francesca, Uccelli, Antonio, Veneselli, Edvige, Battaglia, Francesca Maria, Biancheri, Roberta, Baglietto, Maria Giuseppina, Vincent, Angela, Mancardi, Maria Margherita
المصدر: Archives of Neurology ; volume 69, issue 8 ; ISSN 0003-9942
الإتاحة: https://doi.org/10.1001/archneurol.2012.234Test
http://jamanetwork.com/journals/jamaneurology/fullarticle/1151849Test -
10دورية أكاديمية
المؤلفون: Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David, Filocamo, Mirella
المساهمون: S.S.D. Lab. Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, U.O. Neuropsichiatria Infantile, Institute of Medical Genetics, Cardiff University-School of Medicine, Laboratory of Molecular Medicine, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, Child Neurology Department, Fondazione IRCCS Istituto Neurologico, Génétique, Reproduction et Développement (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne 2017-2020 (UCA 2017-2020 )-Centre National de la Recherche Scientifique (CNRS), Centre de référence des leucodystrophies, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Department of Neurological Neuropsychological, Morphological and Motor Sciences Section, Neurology-Child Neurology and Psychiatry Unit, Department of Child Neurology, Gazi University, U.O. Neuropsichiatria Infantile Azienda, Ospedaliera S.Orsola-Malpighi, Unit of Medical Genetics, Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE)-Dept. of Mother and Child, Servizio di Consulenza Genetica, Centro Provinciale di Coordinamento della Rete delle Malattie Rare, Servizio di Neuroradiologia Pediatrica, The patient samples were obtained from the "Cell Line and DNA Biobank from Patients Affected by Genetic Diseases" (G. Gaslini Institute) - Telethon Genetic Biobank Network (Project No. GTB07001A). This work was partially supported by grants from FP7-HEALTH - LeukoTreat no.241622, European Project: 241622,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,LEUKOTREAT(2010)
المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00604396Test ; Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.40. ⟨10.1186/1750-1172-6-40⟩.
مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21679407; info:eu-repo/grantAgreement/EC/FP7/241622/EU/Therapeutic challenge in Leukodystrophies: Translational and ethical research towards clinical trials/LEUKOTREAT; inserm-00604396; https://inserm.hal.science/inserm-00604396Test; https://inserm.hal.science/inserm-00604396/documentTest; https://inserm.hal.science/inserm-00604396/file/1750-1172-6-40.pdfTest; PUBMED: 21679407
الإتاحة: https://doi.org/10.1186/1750-1172-6-40Test
https://inserm.hal.science/inserm-00604396Test
https://inserm.hal.science/inserm-00604396/documentTest
https://inserm.hal.science/inserm-00604396/file/1750-1172-6-40.pdfTest
النص الكامل