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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
INDEXED IN: WOS
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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
INDEXED IN: WOS
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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
INDEXED IN: Scopus WOS
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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
INDEXED IN: WOS
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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
INDEXED IN: WOS
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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; Ramos, Lina; Soares, Ana Rita; Soares, Celia; Soares, Gabriela; Tkachenko, Nataliya; Amorim, Marta; Antunes, Diana; Freixo, Joao; Fortuna, Ana Maria; Reis, Claudia Falcao; Saraiva, Jorge; Sousa, Ana Berta; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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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
INDEXED IN: WOS
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TITLE: Prepubertal gynecomastia: a rare manifestation of myotonic dystrophy type 1
AUTHORS: Patricia Sofia F Ferreira Miranda; Ester Preciosa M N Maio Nunes Pereira; Joana Serra C B Caetano Baltazar Barreto; Margarida Maria V Videira Henriques; Maria Alice S C Santos Cordeiro Mirante; Lina Maria Jesus F C Ferreira Cardoso Ramos;
PUBLISHED: 2020, SOURCE: REVISTA PAULISTA DE PEDIATRIA, VOLUME: 38
INDEXED IN: Scopus WOS
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TITLE: Tremor is a major feature of 9p13 deletion syndrome  Full Text
AUTHORS: Susana Isabel Ferreira; Giacomo Cinnirella; Lina Ramos; Antonio Suppa; Luis Miguel Pires; Anna Maria Nardone; Letizia Camerota; Silvia Lanciotti; Cinzia Galasso; Fernando De Maio; Joana Barbosa de Melo; Isabel Marques Carreira; Francesco Brancati;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
INDEXED IN: Scopus WOS