Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK , HNFA1 and HNFA4 Mutations
Alvelos, Maria I, Gonçalves, Catarina I, Coutinho, Eduarda, Almeida, Joana T, Bastos, Margarida, Sampaio, Maria L, Melo, Miguel, Martins, Sofia, Dinis, Isabel, Mirante, Alice, Gomes, Leonor, Saraiva, Joana, Pereira, Bernardo D, Gama-de-Sousa, Susana, Moreno, Carolina, Guelho, Daniela, Martins, Diana, Baptista, Carla, Barros, Luísa, Ventura, Mara, Gomes, Maria M, Lemos, Manuel C
Published in Journal of clinical medicine (20.01.2020)
Published in Journal of clinical medicine (20.01.2020)
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Journal Article
Bloody nipple discharge in a breastfeeding boy
Gama de Sousa, Susana, Costa, Emilia, Carvalho, Liliana, Gonçalves de Oliveira, José
Published in Journal of paediatrics and child health (01.12.2010)
Published in Journal of paediatrics and child health (01.12.2010)
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Journal Article
Glicosúria renal: a propósito de dois casos clínicos
Joana Chaves Rebelo, Felisbela Rocha, Susana Gama de Sousa, Paulo Teixeira
Published in Brazilian Journal of Nephrology (01.09.2012)
Published in Brazilian Journal of Nephrology (01.09.2012)
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Journal Article
Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene
Alvelos, Maria Inês, Francisco, Ângela, Gomes, Leonor, Paiva, Isabel, Melo, Miguel, Marques, Pedro, Gama-de-Sousa, Susana, Carreiro, Sofia, Quintela, Telma, Gonçalves, Isabel, Lemos, Manuel Carlos
Published in Pituitary (01.06.2021)
Published in Pituitary (01.06.2021)
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Journal Article
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature
Melo, Cláudia, Gama-de-Sousa, Susana, Almeida, Filipa, Rendeiro, Paula, Tavares, Purificação, Cardoso, Helena, Carvalho, Sónia
Published in Gene (15.10.2013)
Published in Gene (15.10.2013)
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Journal Article
Recém-nascido com deficiência de glicerol quinase: um caso clínico
Madureira, Cristina Duarte P. V. G., Teles-Silva, Cláudia, Melo, Cláudia, Gama de Sousa, Susana
Published in Scientia medica (26.09.2018)
Published in Scientia medica (26.09.2018)
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Journal Article
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima, Torres, Fátima, Soares, Gabriela, Barbosa, Mafalda, Silva, João, Duque, Frederico, Rocha, Miguel, Sá, Joaquim, Oliveira, Guiomar, Sá, Maria João, Temudo, Teresa, Sousa, Susana, Marques, Carla, Lopes, Sofia, Gomes, Catarina, Barros, Gisela, Jorge, Arminda, Rocha, Felisbela, Martins, Cecília, Mesquita, Sandra, Loureiro, Susana, Cardoso, Elisa Maria, Cálix, Maria José, Dias, Andreia, Martins, Cristina, Mota, Céu R, Antunes, Diana, Dupont, Juliette, Figueiredo, Sara, Figueiroa, Sónia, Gama-de-Sousa, Susana, Cruz, Sara, Sampaio, Adriana, Eijk, Paul, Weiss, Marjan M, Ylstra, Bauke, Rendeiro, Paula, Tavares, Purificação, Reis-Lima, Margarida, Pinto-Basto, Jorge, Fortuna, Ana Maria, Maciel, Patrícia
Published in Orphanet journal of rare diseases (05.07.2019)
Published in Orphanet journal of rare diseases (05.07.2019)
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Journal Article
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort
Carriço, Josianne Nunes, Gonçalves, Catarina Inês, Al-Naama, Asma, Syed, Najeeb, Aragüés, José 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, Martin Martins, João, De Sousa Lages, Adriana, Oliveira, Maria João, Castro-Correia, Cíntia, Melo, Miguel, Martins, Raquel Gomes, Couto, Joana, Moreno, Carolina, Martins, Diana, Oliveira, Patrícia, Martins, Teresa, Martins, Sofia Almeida, Marques, Olinda, Meireles, Carla, Garrão, António, Nogueira, Cláudia, Baptista, Carla, Gama-de-Sousa, Susana, Amaral, Cláudia, Martinho, Mariana, Limbert, Catarina, Barros, Luisa, Vieira, Inês Henriques, Sabino, Teresa, Saraiva, Luís R, Lemos, Manuel Carlos
Published in Human reproduction open (2024)
Published in Human reproduction open (2024)
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Journal Article
Letter to the Editor
Gama de Sousa, Susana, Costa, Emilia, Carvalho, Liliana, Gonçalves de Oliveira, José
Published in Journal of paediatrics and child health (01.12.2010)
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Published in Journal of paediatrics and child health (01.12.2010)
Journal Article
Letter to the Editor
Gama de Sousa, Susana, Costa, Emilia, Carvalho, Liliana, Gonçalves de Oliveira, José
Published in Journal of paediatrics and child health (01.12.2010)
Published in Journal of paediatrics and child health (01.12.2010)
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Journal Article
Letter to the Editor
Gama de Sousa, Susana, Costa, Emilia, Carvalho, Liliana, Gonçalves de Oliveira, José
Published in Journal of paediatrics and child health (01.12.2010)
Published in Journal of paediatrics and child health (01.12.2010)
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Journal Article
Letter to the Editor
Gama de Sousa, Susana, Costa, Emilia, Carvalho, Liliana, Gonçalves de Oliveira, José
Published in Journal of paediatrics and child health (01.12.2010)
Published in Journal of paediatrics and child health (01.12.2010)
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Journal Article
Pertussis ainda mata
Freitas, Joana, de Sousa, Susana Gama, Miguel, Cristina, Fonseca, Paula
Published in Revista portuguesa de pneumologia (01.03.2010)
Published in Revista portuguesa de pneumologia (01.03.2010)
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Journal Article
Pertussis in Portugal – Time for a new strategy
de Sousa, Susana Gama, Barros, Henrique, Henrique Barros, Doutor
Published in Revista portuguesa de pneumologia (English ed.) (01.07.2010)
Published in Revista portuguesa de pneumologia (English ed.) (01.07.2010)
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Journal Article
Hipotiroidismo e alopécia areata: coincidência ou consequência
Tânia Lopes, Cristina Duarte Madureira, Ana Raquel Moreira, Susana Gama de Sousa, Paula Fonseca
Published in Ecos do Minho (01.06.2017)
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Published in Ecos do Minho (01.06.2017)
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