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TITLE: A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum  Full Text
AUTHORS: Baldo, Manuela Schubert; Azevedo, Luisa ; Coelho, Margarida Paiva; Martins, Esmeralda; Vilarinho, Laura;
PUBLISHED: 2024, SOURCE: DIAGNOSTICS, VOLUME: 14, ISSUE: 19
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
AUTHORS: Lopes Marques, Monica ; Mort, Matthew; Carneiro, Joao; Azevedo, Antonio; Amaro, Andreia P.; Cooper, David N.; Azevedo, Luisa ;
PUBLISHED: 2024, SOURCE: HUMAN GENOMICS, VOLUME: 18, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
4
TITLE: Naturally occurring genetic diseases caused by de novo variants in domestic animals
AUTHORS: Azevedo, Luisa ; Amaro, Andreia P.; Niza Ribeiro, Joao; Lopes Marques, Monica;
PUBLISHED: 2024, SOURCE: ANIMAL GENETICS, VOLUME: 55, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
5
TITLE: Polymorphic pseudogenes in the human genome - a comprehensive assessment  Full Text
AUTHORS: Lopes Marques, Monica; Peixoto, M. Joao; Cooper, David N.; Prata, M. Joao; Azevedo, Luisa ; Castro, L. Filipe C.;
PUBLISHED: 2024, SOURCE: HUMAN GENETICS, VOLUME: 143, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: Using plants in forensics: State-of-the-art and prospects  Full Text
AUTHORS: Oliveira, Manuela; Azevedo, Luisa ; Ballard, David; Branicki, Wojciech; Amorim, Antonio ;
PUBLISHED: 2023, SOURCE: PLANT SCIENCE, VOLUME: 336
INDEXED IN: Scopus WOS CrossRef Unpaywall
IN MY: ORCID
9
TITLE: Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?
AUTHORS: Quelhas, Dulce ; Jaeken, Jaak; Azevedo, Luisa ;
PUBLISHED: 2022, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
10
TITLE: Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years
AUTHORS: Oliveira, Manuela; Azevedo, Luisa ;
PUBLISHED: 2022, SOURCE: JOURNAL OF FUNGI, VOLUME: 8, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID
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