Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 239
| Data | Título | Autor(es) | Tipo | Acesso |
| Out-2017 | Bases moleculares de los defectos en el complejo mitocondrial ETF/ETF-QO | Rocha, 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, Laura | conferenceObject |  |
| 18-Mar-2017 | Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine | Nogueira, 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, Helena | conferenceObject | |
| 6-Set-2017 | Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis | Nogueira, 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, Helena | conferenceObject | |
| 11-Mar-2017 | Metabolic Diseases Masquerading As Primary Progressive Multiple Sclerosis | Nogueira, Célia; Vilarinho, Laura; Ribeiro, Diogo; Alves, Sandra; Vieira, Luís; Sá, Maria José; Macário, Maria do Carmo; Silva, Ana; Sá, João | conferenceObject | |
| Mar-2017 | Tissue and cell-type dependent impact of secondary glucocerebrosidase abnormalities due to LIMP-2 deficiency | Gaspar, 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, Hans | conferenceObject | |
| Mar-2017 | Lysossomal acid lipase activity in dried blood spots - preliminar results | Gaspar, Paulo; Alves, Sandra; Vilarinho, Laura | conferenceObject | |
| 2017 | Second-hand smoke exposure effects on nasal epithelia proteome | Neves, Sofia; Pacheco, Solange; Vaz, Fatima; James, Peter; Penque, Deborah | article | |
| 2017 | Proteoforms of transthyretin - candidate biomarkers in diagnosis of obstructive sleep | Torres, VM; Feliciano, Amélia; Antunes, Marilia; Vaz, Fatima; Penque, Deborah | conferenceObject | |
| 15-Mar-2018 | Identification of newborns with galactosemia based on altered amino acids profile in the metabolic newborn screening | Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Neiva, Raquel; Vilarinho, Laura | conferenceObject | |
| Nov-2017 | Molecular Characterization of a Novel Mucopolysaccharidosis type VIcausing Mutation - Indirect Proof of Principle on its Pathogenicity | Coutinho, Maria Francisca; Encarnação, Marisa; Santos, Juliana Inês; Alves, Sandra | conferenceObject | |
| Nov-2017 | Genetically Modulated Substrate Reduction Therapy for Sanfilippo syndrome – proof of principle | Santos, Juliana Inês; Coutinho, Maria Francisca; Alves, Sandra | conferenceObject | |
| Mar-2017 | Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in Mucopolysaccharidoses | Coutinho, Maria Francisca; Santos, Juliana Inês; Alves, Sandra | conferenceObject | |
| Mar-2017 | Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases | Coutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; Ribeiro, Diogo; Alves, Sandra | conferenceObject | |
| Set-2017 | Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC | Matos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra | conferenceObject | |
| Nov-2017 | KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond conventional cytogenetics | Carvalho, I.; Freixo, J.P.; Cruz, J.; Oliveira, N.; Marques, B.; Correia, H.; Morton, C.; David, D. | conferenceObject | |
| Nov-2017 | Nucleotide-level resolution of a complex chromosomal rearrangement associated with cognitive disabilities reveals chromothripsis | Cardoso, M.; Oliva-Teles, N.; Tkachenko, N.; Talkowski, M.E.; Morton, C.C.; Fortuna, A.M.; David, D. | conferenceObject | |
| Set-2017 | Use of an antisense-mediated exon skipping approach as a therapeutic option for a common Mucolipidosis type II causing mutation | Matos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra | conferenceObject | |
| 16-Nov-2017 | Concordance between variants detected by clinical exome, gene panel and Sanger sequencing | Mendonça, Joana; Silva, Catarina; Theisen, Patrícia; Gonçalves, João; Vieira, Luís | conferenceObject | |
| Mai-2017 | Induced pluripotent stem cells as genetic disease models | Duarte, Ana Joana; Bragança, José; Amaral, Olga | conferenceObject | |
| 8-Nov-2017 | Gene editing in Lysosomal Diseases | Duarte, Ana Joana; Bragança, José; Coutinho, Francisca; Amaral, Olga | conferenceObject | |
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 239
