Lina Maria Jesus F. C. Ferreira Cardoso Ramos
AuthID: R-00J-K45
1
TITLE: Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies Full Text
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
2
TITLE: WHOLE EXOME SEQUENCING- FIRST TIER TEST FOR FETUSES WITH SEVERE CENTRAL NERVOUS SYSTEM ANOMALIES Full Text
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Garcia, Elsa; Correia, Ana; Alves, Claudia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lopes, Dulcina; Rosmaninho, Adosinda; de Almeida, Maria Lopes; Ramos, Lina; Ramos, Fabiana; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Garcia, Elsa; Correia, Ana; Alves, Claudia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lopes, Dulcina; Rosmaninho, Adosinda; de Almeida, Maria Lopes; Ramos, Lina; Ramos, Fabiana; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: 
WOS
WOS3
TITLE: CHOLESTATIC DISEASE IN THE NEWBORN AND CHILD: CLINICAL AND MOLECULAR CHARACTERIZATION OF A GROUP OF PATIENTS Full Text
AUTHORS: Rosas, Catarina S.; Goncalves, Isabel; Ferreira, Sandra; Nobre, Susana; Alonso, Isabel; Freixo, Joao P.; Ramos, Lina C.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Rosas, Catarina S.; Goncalves, Isabel; Ferreira, Sandra; Nobre, Susana; Alonso, Isabel; Freixo, Joao P.; Ramos, Lina C.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: WOS
WOS4
TITLE: AN INTERSTITIAL TRIPLICATION OF 15Q11-Q13: A NEW CASE REPORT WITH HYPOTONIA AND FETAL GROWTH RESTRICTION Full Text
AUTHORS: Paiva, Patricia; Ferreira, Susana Isabel; Jardim, Ana; Ramos, Lina; Melo, Joana Barbosa; Carreira, Isabel M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Paiva, Patricia; Ferreira, Susana Isabel; Jardim, Ana; Ramos, Lina; Melo, Joana Barbosa; Carreira, Isabel M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS5
TITLE: TAF2 RELATED TO THE TRANSCRIPTION FACTOR TFIID: A NEW FAMILY AND REVIEW OF THE LITERATURE Full Text
AUTHORS: Rosas, Catarina S.; Santos, Vera M. F.; Travessa, Andre; Ramos, Lina C.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Rosas, Catarina S.; Santos, Vera M. F.; Travessa, Andre; Ramos, Lina C.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS6
TITLE: Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency Full Text
AUTHORS: Saraiva, Miguel; Santos, Vera M. F.; Ramos, Lina; Ramos, Fabiana; Serra Caetano, Joana; Cardoso, Rita; Dinis, Isabel; Mirante, Alice;
PUBLISHED: 2023, SOURCE: FETAL AND PEDIATRIC PATHOLOGY
AUTHORS: Saraiva, Miguel; Santos, Vera M. F.; Ramos, Lina; Ramos, Fabiana; Serra Caetano, Joana; Cardoso, Rita; Dinis, Isabel; Mirante, Alice;
PUBLISHED: 2023, SOURCE: FETAL AND PEDIATRIC PATHOLOGY
INDEXED IN: 
Scopus WOS
Scopus WOS7
TITLE: Variable expressivity of 22q11.2 microduplications: an investigation of 13 cases toward a phenotype-genotype correlation
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS8
TITLE: PHENOTYPIC VARIABILITY IN GLYCOGEN STORAGE DISEASE TYPE IXA - FOUR CLINICAL CASES Full Text
AUTHORS: Santos, Vera M. F.; Rosas, Catarina S.; Florido, Mariana; Baptista, Nanci; Martins, Fatima; Nobre, Susana; Diogo, Luisa; Ramos, Lina;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Santos, Vera M. F.; Rosas, Catarina S.; Florido, Mariana; Baptista, Nanci; Martins, Fatima; Nobre, Susana; Diogo, Luisa; Ramos, Lina;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS9
TITLE: KBG SYNDROME IN THE PORTUGUESE POPULATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF 41 PATIENTS Full Text
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS10
TITLE: MANDIBULOFACIAL DYSOSTOSIS TYPE GUION-ALMEIDA: NATIONAL CASE SERIES WITH CLINICAL AND MOLECULAR CHARACTERIZATION Full Text
AUTHORS: Melo, Mafalda; Soares, Celia Azevedo; Travessa, Andre; Soares, Diana; Leao, Miguel; Ramos, Lina; Antunes, Diana;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Melo, Mafalda; Soares, Celia Azevedo; Travessa, Andre; Soares, Diana; Leao, Miguel; Ramos, Lina; Antunes, Diana;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS