Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Artigo
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Preemptive liver transplantation in a child with familial hypercholesterolemiaMaiorana, Arianna ; Nobili, Valerio ; Calandra, Sebastiano ; Francalanci, Paola ; Bernabei, Silvia ; El Hachem, Maya ; Monti, Lidia ; Gennari, Fabrizio ; Torre, Giuliano ; de Ville de Goyet, Jean ; Bartuli, AndreaPediatric transplantation, 2011-03, Vol.15 (2), p.E25-E29 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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2 |
Material Type: Artigo
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Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic studyBattisti, Carla ; Tarugi, Patrizla ; Dotti, Maria Teresa ; De Stefano, Nicola ; Vattimo, Angelo ; Chierichetti, Francesea ; Calandra, Sebastiano ; Federico, AntonioMovement disorders, 2003-11, Vol.18 (11), p.1405-1409 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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3 |
Material Type: Artigo
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Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancyWilson, Callum J. ; Oliva, Claudio Priore ; Maggi, Franco ; Catapano, Alberico L. ; Calandra, SebastianoAnnals of neurology, 2003-06, Vol.53 (6), p.807-810 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneityDotti, Maria Teresa ; Federico, Antonio ; Garuti, Rita ; Calandra, SebastianoMovement disorders, 2000-09, Vol.15 (5), p.1017-1019 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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5 |
Material Type: Artigo
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Rapid sizing of microsatellite alleles by gel electrophoresis on microfabricated channels: Application to the D19S394 tetranucleotide repeat for cosegregation study of familial hypercholesterolemiaCantàfora, Alfredo ; Blotta, Ida ; Bruzzese, Nicodemo ; Calandra, Sebastiano ; Bertolini, StefanoElectrophoresis, 2001-10, Vol.22 (18), p.4012-4015 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C diseaseDi Leo, Enza ; Panico, Francesca ; Tarugi, Patrizia ; Battisti, Carla ; Federico, Antonio ; Calandra, SebastianoHuman mutation, 2004-11, Vol.24 (5), p.440-440 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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7 |
Material Type: Artigo
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Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemiaCantafora, Alfredo ; Blotta, Ida ; Pino, Elisabetta ; Pisciotta, Livia ; Calandra, Sebastiano ; Bertolini, StefanoElectrophoresis, 2004-11, Vol.25 (21-22), p.3882-3889 [Periódico revisado por pares]Weinheim: WILEY-VCH VerlagTexto completo disponível |
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8 |
Material Type: Artigo
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Endogenous dopaminergic tone and dopamine agonist actionTreseder, Sarah A. ; Smith, Lance A. ; Jenner, PeterMovement disorders, 2000-09, Vol.15 (5), p.804-812 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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9 |
Material Type: Report
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Preemptive liver transplantation in a child with familial hypercholesterolemiaMaiorana, Arianna ; Nobili, Valerio ; Calandra, Sebastiano ; Francalanci, Paola ; Bernabei, Silvia ; El Hachem, Maya ; Monti, Lidia ; Gennari, Fabrizio ; Torre, Giuliano ; de Ville de Goyet, Jean ; Bartuli, AndreaPediatric Transplantation, 2011, Vol.15 (2), p.E25-E29Oxford, UK: Blackwell Publishing LtdTexto completo disponível |