11
TITLE: Variable expressivity of 22q11.2 microduplications: an investigation of 13 cases toward a phenotype-genotype correlation
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
12
TITLE: Communication Design Playing a Role in Social Innovation
AUTHORS: Melo, A; Neves, M;
PUBLISHED: 2022, SOURCE: Springer Series in Design and Innovation, VOLUME: 16
INDEXED IN: Scopus
13
TITLE: MATERNAL DELETION ENCOMPASSING EXONS 4 TO 7 OF THE UBE3A GENE IN A FAMILY WITH ANGELMAN SYNDROME CONFIRMED BY MLPA  Full Text
AUTHORS: Pires, Luis Miguel; Ferreira, Susana I.; Val, Mariana; Ramos, Fabiana; Sa, Joaquim; Sousa, Sergio; Melo, Joana B.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
14
TITLE: CIRCULATING CELL-FREE DNA LEVELS AND MOLECULAR PROFILING OF GLIOMA PATIENTS  Full Text
AUTHORS: Tavares, Ines; Roda, Domingos; Jorge, Ana Carolina; Rosa, Gui; Barros, Joao; Velasco, Ricardo; Pires, Luis Miguel; Alves, Paula; Melo, Joana Barbosa; Ribeiro, Ilda Patricia; Carreira, Isabel Marques;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
15
TITLE: EPIGENETIC ANALYSIS OF A GANGLIOGLIOMA BY MS-MLPA - THE INCREASING IMPORTANCE OF METHYLOME PROFILING  Full Text
AUTHORS: Jesus Ribeiro, Joana; Ribeiro, Ilda Patricia; Pires, Luis Miguel; Rebelo, Olinda; Pereira, Ricardo; Sales, Francisco; Freire, Antonio; Melo, Joana Barbosa;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
16
TITLE: A NIPT ANEUPLOIDY SUSPITION WITH NORMAL QF-PCR AND aCGH. KARYOTYPE GIVES THE ANSWER  Full Text
AUTHORS: Pinto, M; Pires, LM; Ferreira, S; Paiva, P; Jardim, A; Melo, JB; Carreira, IM;
PUBLISHED: 2021, SOURCE: 24th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 100, ISSUE: 4
INDEXED IN: WOS
17
TITLE: DETECTION OF CHROMOSOME 3p DUPLICATION WITH ADJACENT TERMINAL DELETION IN PRENATAL DIAGNOSIS  Full Text
AUTHORS: Val, M; Ferreira, SI; Pires, LM; Lavoura, N; Mascarenhas, A; Pais, C; Carreira, IM; Melo, JB;
PUBLISHED: 2021, SOURCE: 24th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 100, ISSUE: 4
INDEXED IN: WOS
18
TITLE: The past, present and future role of automation in the electricity grid - A Portuguese perspective
AUTHORS: José Gonçalves; Pedro Miguel; Luís Neves; Fernando Ramalheira; João Rosa; Bruno Oliveira Santos;
PUBLISHED: 2021, SOURCE: 26th International Conference and Exhibition on Electricity Distribution, CIRED 2021 in IET Conference Proceedings, VOLUME: 2021, ISSUE: 6
INDEXED IN: Scopus CrossRef
IN MY: ORCID
19
TITLE: Big Data in Smart Cities –Water Demand Prototypes Using Clustering Techniques
AUTHORS: Pedro Miguel; José Gonçalves; Luís Neves;
PUBLISHED: 2021, SOURCE: Proceedings of the 1st International Conference on Water Energy Food and Sustainability (ICoWEFS 2021)
INDEXED IN: CrossRef
IN MY: ORCID
20
TITLE: FMR1 gene: from primary ovarian insufficiency in grandmothers to children with intellectual disability  Full Text
AUTHORS: Susana Isabel Ferreira; Luis Miguel Pires; Nuno Lavoura; Mariana Val; Jorge Saraiva; Lina Ramos; Isabel Marques Carreira;
PUBLISHED: 2020, SOURCE: CIMAGO Meeting - Challenges in Oncobiology in MEDICINE, VOLUME: 99, ISSUE: 23
INDEXED IN: WOS
Page 2 of 6. Total results: 60.