11
TITLE: PARKINSON DISEASE: EXPERIENCE OF TWO DECADES IN THE ANALYSIS OF PRKN GENE  Full Text
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
12
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
13
TITLE: Interpreting sequence variants: a daily challenge in a clinical molecular genetics laboratory  Full Text
AUTHORS: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
14
TITLE: Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism  Full Text
AUTHORS: Isabel Moreira; Rita Bastos Ferreira; Joao Silva; Cheila Ribeiro; Isabel Alonso; Joao Chaves;
PUBLISHED: 2015, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 25
INDEXED IN: Scopus WOS CrossRef: 1
15
TITLE: Shifting the CARASIL Paradigm Report of a Non-Asian Family and Literature Review
AUTHORS: Ines Menezes Cordeiro; Hipolito Nzwalo; Francisca Sa; Rita Bastos Ferreira; Isabel Alonso; Luis Afonso; Carlos Basilio;
PUBLISHED: 2015, SOURCE: STROKE, VOLUME: 46, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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