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TITLE: Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort
AUTHORS: Carrico, Josianne Nunes; Goncalves, Catarina Ines; Al Naama, Asma; Syed, Najeeb; Aragues, Jose Maria; Bastos, Margarida; Fonseca, Fernando; Borges, Teresa; Pereira, Bernardo Dias; Pignatelli, Duarte; Carvalho, Davide ; Cunha, Filipe; Saavedra, Ana; Rodrigues, Elisabete; Saraiva, Joana; Ruas, Luisa; Vicente, Nuno; Martins, Joao Martin; De Sousa Lages, Adriana; Oliveira, Maria Joao; Castro Correia, Cintia; Melo, Miguel; Martins, Raquel Gomes ; Couto, Joana; Moreno, Carolina; Martins, Diana; Oliveira, Patricia; Martins, Teresa; Martins, Sofia Almeida; Marques, Olinda; Meireles, Carla; Garrao, Antonio; Nogueira, Claudia; Baptista, Carla; Gama de Sousa, Susana; Amaral, Claudia; Martinho, Mariana; Limbert, Catarina; Barros, Luisa; Vieira, Ines Henriques; Sabino, Teresa; Saraiva, Luis R.; Lemos, Manuel Carlos; ...More
PUBLISHED: 2024, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2024, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef Unpaywall
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TITLE: Turner syndrome and neurofibromatosis type 1: the unusual combination of two common genetic disorders
AUTHORS: Vieira, Ines; Lopes, Sofia; Bastos, Margarida; Ruas, Luisa; Rodrigues, Dircea; Paiva, Isabel;
PUBLISHED: 2022, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2022, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Non-immune-mediated versus immune-mediated type 1 diabetes: diagnosis and long-term differences-retrospective analysis  Full Text
AUTHORS: Diana Catarino; Diana Silva; Joana Guiomar; Cristina Ribeiro; Luisa Ruas; Luis Cardoso; Isabel Paiva;
PUBLISHED: 2020, SOURCE: DIABETOLOGY & METABOLIC SYNDROME, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: LATE ONSET CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY Revision of Literature and Preconception Genetic Study of Five Couples  Full Text
AUTHORS: Alexandra Vieira; Sandra Paiva; Carla Baptista; Luisa Ruas; Julia Silva; Joao Goncalves; Francisco Carrilho; Manuela Carvalheiro;
PUBLISHED: 2011, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 24, ISSUE: 1
INDEXED IN: WOS