Ana Rita Ferreira Pacheco Quental
AuthID: R-001-GCF
11
TITLE: Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome Full Text
AUTHORS: Quental, R; Goncalves, D ; Rodrigues, E; Goncalves, ES; Oliveira, J; Freixo, JP; Leao, M;
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 188, ISSUE: 4
AUTHORS: Quental, R; Goncalves, D ; Rodrigues, E; Goncalves, ES; Oliveira, J; Freixo, JP; Leao, M;
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 188, ISSUE: 4
12
TITLE: Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature
AUTHORS: Quental, Rita; Borges, Joana Pires; Santos, Helena; Leao, Miguel;
PUBLISHED: 2022, SOURCE: MOLECULAR SYNDROMOLOGY
AUTHORS: Quental, Rita; Borges, Joana Pires; Santos, Helena; Leao, Miguel;
PUBLISHED: 2022, SOURCE: MOLECULAR SYNDROMOLOGY
INDEXED IN: 
WOS
WOS13
TITLE: Clinical and genetic characterization of seven Portuguese patients with KMT2B variants
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS14
TITLE: Expanding the spectrum of WAC-related intellectual disability: two novel variants and a patient with congenital heart disease
AUTHORS: Quental, Rita; Goncalves, Daniel; Freixo, Joao Parente; Leao, Miguel;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Quental, Rita; Goncalves, Daniel; Freixo, Joao Parente; Leao, Miguel;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS15
TITLE: HEART DEFECTS, ORAL CLEFT, AND POLYDACTYLY CAUSED BY BIALLELIC VARIANTS IN WDPCP GENE INVOLVED IN CILIOGENESIS Full Text
AUTHORS: Quental, Rita; Freixo, Joao P.; Leao, Miguel;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Quental, Rita; Freixo, Joao P.; Leao, Miguel;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS16
TITLE: EXPANDING THE MUTATIONAL SPECTRUM OF KMT2B GENE: SIX NOVEL VARIANTS AND TWO CASES WITH ATYPICAL PRESENTATIONS Full Text
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS17
TITLE: A novel RAD21 variant in family with mild Cornelia de Lange syndrome phenotype Full Text
AUTHORS: Ana Grangeia; Rita Quental; Isabel Alonso; Helena Santos; Miguel Leao;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
AUTHORS: Ana Grangeia; Rita Quental; Isabel Alonso; Helena Santos; Miguel Leao;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
WOS18
TITLE: Novel YY1 pathogenic variant: expanding the phenotype of Gabriele-de Vries Syndrome Full Text
AUTHORS: Rita Quental; Ana Grangeia; Isabel Alonso; Miguel Leao;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
AUTHORS: Rita Quental; Ana Grangeia; Isabel Alonso; Miguel Leao;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
WOS19
TITLE: Rice quality profiling to classify germplasm in breeding programs Full Text
AUTHORS: Ana Rita Ferreira; Jorge Oliveira; Shivani Pathania; Ana Sofia Almeida; Carla Brites;
PUBLISHED: 2017, SOURCE: JOURNAL OF CEREAL SCIENCE, VOLUME: 76
AUTHORS: Ana Rita Ferreira; Jorge Oliveira; Shivani Pathania; Ana Sofia Almeida; Carla Brites;
PUBLISHED: 2017, SOURCE: JOURNAL OF CEREAL SCIENCE, VOLUME: 76
INDEXED IN: 
Scopus WOS
Scopus WOS20
TITLE: Food hygiene practices in different food establishments Full Text
AUTHORS: Ilija Djekic; Nada Smigic; Eleni P Kalogianni; Ada Rocha ; Lamprini Zamioudi; Rita Pacheco;
PUBLISHED: 2014, SOURCE: FOOD CONTROL, VOLUME: 39, ISSUE: 1
AUTHORS: Ilija Djekic; Nada Smigic; Eleni P Kalogianni; Ada Rocha ; Lamprini Zamioudi; Rita Pacheco;
PUBLISHED: 2014, SOURCE: FOOD CONTROL, VOLUME: 39, ISSUE: 1
