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TITLE: Corneal Biomechanical Changes in Patients with Inherited Retinal Diseases  Full Text
AUTHORS: Marta, Ana; André Ferreira; Couto, Ines; Neves, Miguel Mesquita; Gomes, Miguel; Oliveira, Luis ; Soares, Celia Azevedo ; Meneres, Maria Joao; Lemos, Carolina ; Beirao, Joao Melo;
PUBLISHED: 2024, SOURCE: CLINICAL OPHTHALMOLOGY, VOLUME: 18
INDEXED IN: Scopus WOS CrossRef
2
TITLE: Effect of dapagliflozin in proteinuria reduction and glomerular filtration rate in a group of Alport syndrome patients
AUTHORS: Gomes, Ana Marta ; Malheiro, Jorge; Lemos, Carolina ; Dias, Joana Pereira; Lopes, Daniela; Almeida, Clara; Beirao, Idalina;
PUBLISHED: 2024, SOURCE: 61st Congress of European-Renal-Association (ERA) in NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 39
INDEXED IN: WOS
3
TITLE: Rac1 inhibition prevents axonal cytoskeleton dysfunction in Transthyretin Amyloid Polyneuropathy
AUTHORS: Joana Magalhães; Vítor Dias; Jessica Eira; Guilherme Nóvoa; Marina I Oliveira da Silva; Yu Yu Kan; Andreia Dias; Estefânia Carvalho; Mariana Santos; Ana I Seixas; Teresa Coelho; Ricardo Taipa; Joana Paes de Faria; Carolina Lemos ; Sung-Tsang Hsieh; Márcia A Liz;
PUBLISHED: 2024
INDEXED IN: CrossRef
IN MY: ORCID
4
TITLE: The socioeconomic epidemiology of inherited retinal diseases in Portugal  Full Text
AUTHORS: Marta, Ana; Marques, Joao Pedro; Santos, Cristina; Coutinho Santos, Luisa; Vaz Pereira, Sara; Costa, Jose; Arede, Pedro; Felix, Raquel; Geada, Sara; Gouveia, Nuno; Silva, Rui; Baptista, Margarida; Lume, Miguel; Parreira, Ricardo; Azevedo Soares, Celia ; Meneres, Maria Joao; Lemos, Carolina ; Melo Beirao, Joao;
PUBLISHED: 2024, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
5
TITLE: An European overview of genetic counselling supervision provision
AUTHORS: Paneque, Milena ; Guimaraes, Lidia; Bengoa, Joana; Pasalodos, Sara; Cordier, Christophe; Esteban, Irene; Lemos, Carolina ; Moldovan, Ramona; Serra Juhe, Clara;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
6
TITLE: Different relationships between epilepsy syndromes and autoimmune diseases
AUTHORS: Chaves, Joao ; Leal, Barbara ; Sardoeira, Ana; Carvalho, Vanessa; Samoes, Raquel; Freitas, Joel; Chorao, Rui; Ferreira, Ana Marta; Bras, Sandra; Lopes, Joao; Ramalheira, Joao; Lemos, Carolina ; Costa, Paulo Pinho ; Marinho, Antonio; da Silva, Berta Martins; da Silva, Antonio Martins ;
PUBLISHED: 2023, SOURCE: EPILEPTIC DISORDERS, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine  Full Text
AUTHORS: Dias, Andreia; Santos, Mariana; Carvalho, Estefania; Felicio, Daniela; Silva, Paulo; Alves, Ivania; Pinho, Teresa; Sousa, Alda; Alves Ferreira, Miguel; Lemos, Carolina ;
PUBLISHED: 2023, SOURCE: CLINICAL GENETICS, VOLUME: 104, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
8
TITLE: Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes  Full Text
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignes, Camille; Dominguez Garrido, Elena; Egas, Conceicao; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, Maria; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Huneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lazaro, Conxi; Ligtenberg, Marjolijn J. L.; Martinez Bouzas, Cristina; Merino, Sonia; Michils, Genevieve; Novakovic, Srdjan; Patino Garcia, Ana; Ranzani, Guglielmina Nadia; Schrock, Evelin; Silva, Ines; Silveira, Catarina; Soto, Jose L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, Maria Isabel; Woodward, Emma R.; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID
9
TITLE: INTEGRATING FUNCTIONAL GENOMIC DATA TO PRIORITIZE CANDIDATE NON-CODING VARIANTS IN MIGRAINE SUSCEPTIBILITY  Full Text
AUTHORS: Felicio, Daniela; Martins, Sandra; Santos, Mariana; Lopes, Alexandra M.; Lemos, Carolina ; Pinto, Nadia ; Alves Ferreira, Miguel;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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