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TITLE: Voltage-Gated Sodium Channel NaV1.2: Structural Perspective of the Genetic Variability  Full Text
AUTHORS: Oliveira Madureira, Tomas; Leal, Barbara ; Azevedo, Luisa;
PUBLISHED: 2026, SOURCE: BIOCHEMICAL GENETICS
INDEXED IN: Scopus WOS CrossRef
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2
TITLE: A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses  Full Text
AUTHORS: Oliveira, Tiago; Ferraz, Ricardo; Azevedo, Luisa; Quelhas, Dulce; Carneiro, Joao ; Jaeken, Jaak; Sérgio F. Sousa ;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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3
TITLE: Trimetilaminúria (Síndroma de odor a peixe) uma doença subestimada: espectro mutacional da população portuguesa
AUTHORS: Filipa Ferreira; Lígia S Almeida; Ana Gaspar; Cláudia D d Costa; Patrícia Janeiro; Anabela Bandeira; Esmeralda Martins; Elisa L Teles; Paula Garcia; Luísa Azevedo; Laura Vilarinho;
PUBLISHED: 2015, VOLUME: 4(Supl 5)
INDEXED IN: Handle
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TITLE: <i>PAH</i> mutational spectrum: still expanding  Full Text
AUTHORS: Laura Vilarinho; Sofia Esteves; Elisabete Ramos ; António Amorim; Luisa Azevedo;
PUBLISHED: 2011, SOURCE: Open Journal of Genetics, VOLUME: 01, ISSUE: 02
INDEXED IN: CrossRef: 1
IN MY: ORCID
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TITLE: Consequences of primer binding-sites polymorphisms on genotyping practice  Full Text
AUTHORS: Estefânia M Martins; Laura Vilarinho; Sofia Esteves; Mónica Lopes-Marques; António Amorim; Luísa Azevedo;
PUBLISHED: 2011, SOURCE: Open Journal of Genetics, VOLUME: 01, ISSUE: 02
INDEXED IN: CrossRef: 12
IN MY: ORCID
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TITLE: Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms  Full Text
AUTHORS: AZEVEDO, L; CALAFELL, F; VILARINHO, L; Amorim, Antonio ;
PUBLISHED: 2002, SOURCE: Annals of Human Genetics, VOLUME: 66, ISSUE: 6
INDEXED IN: CrossRef: 5
IN MY: ORCID