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TITLE: TREACHER COLLINS SYNDROME ASSOCIATED WITH POLR1D-A MILDER PHENOTYPE? REPORT OF TWO FAMILIES  Full Text
AUTHORS: Neves, Mariana Tomasio; Dias, P.; Sousa, A. B.;
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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TITLE: Juvenile presentation of a pigmented villonodular synovitis of the wrist
AUTHORS: Correia, M.; Lopes, CDF; Costa, E.; Silva, R.; Ribeiro, A. R.; Cerqueira, M.;
PUBLISHED: 2023, SOURCE: ARP RHEUMATOLOGY, VOLUME: 2, ISSUE: 3
INDEXED IN: WOS
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TITLE: A High Methylation Level of a Novel -284 bp CpG Island in the RAMP1 Gene Promoter Is Potentially Associated with Migraine in Women  Full Text
AUTHORS: Carvalho, Estefania; Dias, Andreia; Sousa, Alda; Lopes, Alexandra M. ; Martins, Sandra ; Pinto, Nadia ; Lemos, Carolina; Alves Ferreira, Miguel;
PUBLISHED: 2022, SOURCE: BRAIN SCIENCES, VOLUME: 12, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis  Full Text
AUTHORS: Alves Ferreira, M; Azevedo, A; Coelho, T; Santos, D; Sequeiros, J ; Alonso, I; Sousa, A; Lemos, C ;
PUBLISHED: 2021, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 28, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 2
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TITLE: A review of migraine genetics: gathering genomic and transcriptomic factors  Full Text
AUTHORS: Dias, A; Mariz, T; Sousa, A; Lemos, C ; Alves Ferreira, M;
PUBLISHED: 2021, SOURCE: HUMAN GENETICS, VOLUME: 141, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
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TITLE: A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation
AUTHORS: Paneque, M ; Carvalho, M ; Rodrigues, F; Saraiva, J; Leonardo, A; Sousa, AB; Machado, V; Goncalves Rocha, M; Sequeiros, J ; Costa, PS; de Lemos, MS;
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 64, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 1
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TITLE: Perspectives of the Adoption of Cloud Computing in the Tourism Sector
AUTHORS: Palos Sanchez, PR; Correia, MB;
PUBLISHED: 2021, SOURCE: Research Anthology on Architectures, Frameworks, and Integration Strategies for Distributed and Cloud Computing
INDEXED IN: Scopus CrossRef
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