ProfileOfResearchers

TITLE: Designing a Speculative Design Toolkit for Community Biodiversity Activism
AUTHORS: Jeffcott, C; Ferreira, AM;
PUBLISHED: 2023, SOURCE: Springer Series in Design and Innovation, VOLUME: 27

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Scopus

TITLE: Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease Full Text
AUTHORS: Felicio, Daniela; Alves Ferreira, Miguel; Santos, Mariana; Quintas, Marlene; Lopes, Alexandra M.; Lemos, Carolina ; Pinto, Nadia ; Martins, Sandra ;
PUBLISHED: 2023, SOURCE: BRIEFINGS IN FUNCTIONAL GENOMICS

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WOS

TITLE: RAMP1 PROMOTER METHYLATION STATUS IN PORTUGUESE AND SPANISH WOMEN WITH MIGRAINE Full Text
AUTHORS: Carvalho, Estefania; Dias, Andreia; Guerrero, Angel L.; Gomez, Carlos; Sousa, Alda; Lopes, Alexandra M.; Martins, Sandra; Pinto, Nadia ; Lemos, Carolina; Alves Ferreira, Miguel;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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WOS

TITLE: MUTATIONAL SPECTRUM OF GENES RELATED TO HEREDITARY NEUROPATHIES - DATA FROM A MOLECULAR DIAGNOSTICS LABORATORY Full Text
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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WOS

TITLE: GENETIC HETEROGENEITY IN MUSCULAR DYSTROPHIES AND CONGENITAL MYOPATHIES: DATA FROM MULTIGENE WES-BASED GENETIC STUDIES Full Text
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

INDEXED IN:

WOS

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

TITLE: Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
AUTHORS: Laura Kasak; Margus Punab; Liina Nagirnaja; Marina Grigorova; Ave Minajeva; Alexandra M Lopes; Anna Maria Punab; Kenneth I Aston; Filipa Carvalho ; Eve Laasik; Lee B Smith; Donald F Conrad; Maris Laan;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 2

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Scopus

WOS

TITLE: Portuguese consensus document for the management of alpha-1-antitrypsin deficiency
AUTHORS: Lopes, AP; Mineiro, MA; Costa, F; Gomes, J; Santos, C; Antunes, C; Maia, D; Melo, R; Canotilho, M; Magalhães, E; Vicente, I; Valente, C; Gonçalves, BG; Conde, B; Guimarães, C; Sousa, C; Amado, J; Brandão, ME; Sucena, M; Oliveira, MJ; Seixas, S; Teixeira, V; Telo, L; ...More
PUBLISHED: 2018, SOURCE: Pulmonology, VOLUME: 24

INDEXED IN:

Scopus