DGH - Posters/abstracts em congressos internacionais : [239] Página principal da colecção

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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 239
DataTítuloAutor(es)TipoAcesso
Out-2017Bases moleculares de los defectos en el complejo mitocondrial ETF/ETF-QORocha, Hugo; Nogueira, Célia; Martins, Esmeralda; Rodrigues, Esmeralda; Leão, Miguel; Sousa, Carmen; Fonseca, Helena; Marcão, Ana; Gaspar, Ana; Brandão, Otilia; Santos, Helena; Coelho, Teresa; Ribeiro, J. Miguel; Vilarinho, LauraconferenceObjectopenAccess
18-Mar-2017Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicineNogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; Vieira, Luís; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patricia; Costa, Cláudia; Gaspar, Ana; Dupont, Juliette; Soares, Gabriela; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Santos, HelenaconferenceObjectopenAccess
6-Set-2017Next Generation Sequencing Improves Mitochondrial Diseases DiagnosisNogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patrícia; Costa, Claúdia; Gaspar, Ana; Soares, Gabriela; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Sequeira, Sílvia; Vieira, José Pedro; Santos, HelenaconferenceObjectopenAccess
11-Mar-2017Metabolic Diseases Masquerading As Primary Progressive Multiple SclerosisNogueira, Célia; Vilarinho, Laura; Ribeiro, Diogo; Alves, Sandra; Vieira, Luís; Sá, Maria José; Macário, Maria do Carmo; Silva, Ana; Sá, JoãoconferenceObjectopenAccess
Mar-2017Tissue and cell-type dependent impact of secondary glucocerebrosidase abnormalities due to LIMP-2 deficiencyGaspar, Paulo; Kallemeijn, Wouter; Strijland, Anneke; Van Eijk, Marco; Van Roomen, Cindy; Ottenhoff, Roloef; Mirzaian, Mina; Ferraz, Maria; Donker-Koopman, Wilma; Macario, Maria do Carmo; Saftig, Paul; Overkleeft, Herman; Sá Miranda, Clara; Aerts, HansconferenceObjectopenAccess
Mar-2017Lysossomal acid lipase activity in dried blood spots - preliminar resultsGaspar, Paulo; Alves, Sandra; Vilarinho, LauraconferenceObjectopenAccess
2017Second-hand smoke exposure effects on nasal epithelia proteomeNeves, Sofia; Pacheco, Solange; Vaz, Fatima; James, Peter; Penque, DeboraharticleopenAccess
2017Proteoforms of transthyretin - candidate biomarkers in diagnosis of obstructive sleepTorres, VM; Feliciano, Amélia; Antunes, Marilia; Vaz, Fatima; Penque, DeborahconferenceObjectopenAccess
15-Mar-2018Identification of newborns with galactosemia based on altered amino acids profile in the metabolic newborn screeningMarcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Neiva, Raquel; Vilarinho, LauraconferenceObjectopenAccess
Nov-2017Molecular Characterization of a Novel Mucopolysaccharidosis type VIcausing Mutation - Indirect Proof of Principle on its PathogenicityCoutinho, Maria Francisca; Encarnação, Marisa; Santos, Juliana Inês; Alves, SandraconferenceObjectopenAccess
Nov-2017Genetically Modulated Substrate Reduction Therapy for Sanfilippo syndrome – proof of principleSantos, Juliana Inês; Coutinho, Maria Francisca; Alves, SandraconferenceObjectopenAccess
Mar-2017Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in MucopolysaccharidosesCoutinho, Maria Francisca; Santos, Juliana Inês; Alves, SandraconferenceObjectopenAccess
Mar-2017Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage DiseasesCoutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; Ribeiro, Diogo; Alves, SandraconferenceObjectopenAccess
Set-2017Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTCMatos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess
Nov-2017KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond conventional cytogeneticsCarvalho, I.; Freixo, J.P.; Cruz, J.; Oliveira, N.; Marques, B.; Correia, H.; Morton, C.; David, D.conferenceObjectopenAccess
Nov-2017Nucleotide-level resolution of a complex chromosomal rearrangement associated with cognitive disabilities reveals chromothripsisCardoso, M.; Oliva-Teles, N.; Tkachenko, N.; Talkowski, M.E.; Morton, C.C.; Fortuna, A.M.; David, D.conferenceObjectopenAccess
Set-2017Use of an antisense-mediated exon skipping approach as a therapeutic option for a common Mucolipidosis type II causing mutationMatos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess
16-Nov-2017Concordance between variants detected by clinical exome, gene panel and Sanger sequencingMendonça, Joana; Silva, Catarina; Theisen, Patrícia; Gonçalves, João; Vieira, LuísconferenceObjectopenAccess
Mai-2017Induced pluripotent stem cells as genetic disease modelsDuarte, Ana Joana; Bragança, José; Amaral, OlgaconferenceObjectopenAccess
8-Nov-2017Gene editing in Lysosomal DiseasesDuarte, Ana Joana; Bragança, José; Coutinho, Francisca; Amaral, OlgaconferenceObjectopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 239