11
TITLE: Heart defects, oral clefts, and polydactyly caused by novel compound heterozygous variants in WDPCP gene involved in ciliogenesis  Full Text
AUTHORS: Ferreira Pacheco Quental, Ana Rita; Mariz, Carlos; Ramalho, Carla; Freixo, Joao Parente; Louro, Pedro; Leao, Miguel;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: WOS
12
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
INDEXED IN: Scopus WOS CrossRef: 1
13
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
INDEXED IN: WOS
14
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
INDEXED IN: WOS
15
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
INDEXED IN: WOS
16
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
INDEXED IN: WOS
17
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
INDEXED IN: WOS
18
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
INDEXED IN: WOS
19
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
INDEXED IN: WOS
20
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
INDEXED IN: Scopus WOS
Page 2 of 3. Total results: 27.