Fabiana Viana Ramos
AuthID: R-002-RP9
11
TITLE: Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes
AUTHORS: Paula Paulo; Pedro Pinto; Ana Peixoto; Catarina Santos; Carla Pinto; Patricia Rocha; Isabel Veiga; Gabriela Soares; Catarina Machado; Fabiana Ramos; Manuel R Teixeira ;
PUBLISHED: 2017, SOURCE: JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 19, ISSUE: 4
AUTHORS: Paula Paulo; Pedro Pinto; Ana Peixoto; Catarina Santos; Carla Pinto; Patricia Rocha; Isabel Veiga; Gabriela Soares; Catarina Machado; Fabiana Ramos; Manuel R Teixeira ;
PUBLISHED: 2017, SOURCE: JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 19, ISSUE: 4
12
TITLE: Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients Full Text
AUTHORS: Isabel Marques Carreira; Susana Isabel Ferreira; Eunice Matoso; Luis Miguel Pires ; Jose Ferrao; Ana Jardim; Alexandra Mascarenhas; Marta Pinto; Nuno Lavoura; Claudia Pais; Patricia Paiva; Lucia Simoes; Francisco Caramelo; Lina Ramos; Margarida Venancio; Fabiana Ramos; Ana Beleza; Joaquim Sa; Jorge Saraiva; Joana Barbosa de Melo;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
AUTHORS: Isabel Marques Carreira; Susana Isabel Ferreira; Eunice Matoso; Luis Miguel Pires ; Jose Ferrao; Ana Jardim; Alexandra Mascarenhas; Marta Pinto; Nuno Lavoura; Claudia Pais; Patricia Paiva; Lucia Simoes; Francisco Caramelo; Lina Ramos; Margarida Venancio; Fabiana Ramos; Ana Beleza; Joaquim Sa; Jorge Saraiva; Joana Barbosa de Melo;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
13
TITLE: Intellectual Disability, Coarse Face, Relative Macrocephaly, and Cerebellar Hypotrophy in Two Sisters Full Text
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
14
TITLE: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5
15
TITLE: Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth Full Text
AUTHORS: Eunice Matoso; Fabiana Ramos; Jose Ferrao; Luis M Pires ; Alexandra Mascarenhas; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2014, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 7, ISSUE: 1
AUTHORS: Eunice Matoso; Fabiana Ramos; Jose Ferrao; Luis M Pires ; Alexandra Mascarenhas; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2014, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 7, ISSUE: 1
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TITLE: Microdeletion and microduplication screening in 116 patients with clinical features of 22q11 DS, development delay and autism Full Text
AUTHORS: Lois Pires; Patricia Paiva; Guiomar Oliveira; Fabiana Ramos; Jorge Saraiva; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
AUTHORS: Lois Pires; Patricia Paiva; Guiomar Oliveira; Fabiana Ramos; Jorge Saraiva; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
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