Filipa Lima Ramos Santos Júlio
AuthID: R-000-PM1
11
TITLE: Cockayne Syndrome: a new phenotype related to a already described variant Full Text
AUTHORS: Pedro M Almeida; Sara M Ribeiro; Isabel Monteiro; Fabiana Ramos; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Pedro M Almeida; Sara M Ribeiro; Isabel Monteiro; Fabiana Ramos; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: 
WOS
WOS12
TITLE: Interstitial triplication 20p11.22p11.21, in a girl with development delay and vertebral anomalies, disclosed by array-CGH Full Text
AUTHORS: Eunice Matoso; Lina Ramos; Jorge Saraiva; Alexandra Estevinho; Susana I Ferreira; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Eunice Matoso; Lina Ramos; Jorge Saraiva; Alexandra Estevinho; Susana I Ferreira; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS13
TITLE: Assessing Executive Function in Huntington's Disease: A Comparison Between a Virtual Reality Task and Conventional Neuropsychological Tests
AUTHORS: Filipa Julio; Alexandre Malhao; Fabio Pedrosa; Helio Goncalves; Marco Simoes; Miguel Patricio; Mario R Simoes; Marieke van Asselen; Miguel Castelo Branco; Cristina Januario;
PUBLISHED: 2018, SOURCE: NEUROTHERAPEUTICS, VOLUME: 15, ISSUE: 1
AUTHORS: Filipa Julio; Alexandre Malhao; Fabio Pedrosa; Helio Goncalves; Marco Simoes; Miguel Patricio; Mario R Simoes; Marieke van Asselen; Miguel Castelo Branco; Cristina Januario;
PUBLISHED: 2018, SOURCE: NEUROTHERAPEUTICS, VOLUME: 15, ISSUE: 1
INDEXED IN: WOS
WOS14
TITLE: Coffin-lowry syndrome as a rare cause of X-linked drop attacks Full Text
AUTHORS: Bras, A; Teotonio, RMMDR; Ramos, L; Fineza Cruz, IMF; Bento, C;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
AUTHORS: Bras, A; Teotonio, RMMDR; Ramos, L; Fineza Cruz, IMF; Bento, C;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
WOS15
TITLE: Classification of Huntington's disease stage with support vector machines: A study on oculomotor performance
AUTHORS: Angela Miranda; Rui Lavrador; Filipa Julio; Cristina Januario; Miguel Castelo Branco; Gina Caetano;
PUBLISHED: 2016, SOURCE: Behavior Research Methods, VOLUME: 48, ISSUE: 4
AUTHORS: Angela Miranda; Rui Lavrador; Filipa Julio; Cristina Januario; Miguel Castelo Branco; Gina Caetano;
PUBLISHED: 2016, SOURCE: Behavior Research Methods, VOLUME: 48, ISSUE: 4
16
TITLE: Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation Full Text
AUTHORS: Maria R Almeida; Maria C Macario; Lina Ramos; Ines Baldeiras; Maria H Ribeiro; Isabel Santana;
PUBLISHED: 2016, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 41
AUTHORS: Maria R Almeida; Maria C Macario; Lina Ramos; Ines Baldeiras; Maria H Ribeiro; Isabel Santana;
PUBLISHED: 2016, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 41
17
TITLE: Phenotyping GABA transaminase deficiency: a case description and literature review Full Text
AUTHORS: Pedro Louro ; Lina Ramos; Conceicao Robalo; Candida Cancelinha; Alexandra Dinis; Ricardo Veiga; Raquel Pina; Olinda Rebelo; Ana Pop; Luisa Diogo; Gajja S Salomons; Paula Garcia;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 5
AUTHORS: Pedro Louro ; Lina Ramos; Conceicao Robalo; Candida Cancelinha; Alexandra Dinis; Ricardo Veiga; Raquel Pina; Olinda Rebelo; Ana Pop; Luisa Diogo; Gajja S Salomons; Paula Garcia;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 5
18
TITLE: Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene Full Text
AUTHORS: Joana B Melo; Alexandra Estevinho; Jorge Saraiva; Lina Ramos; Isabel M Carreira;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
AUTHORS: Joana B Melo; Alexandra Estevinho; Jorge Saraiva; Lina Ramos; Isabel M Carreira;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
19
TITLE: Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
20
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
