A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations by Vaz de Assunção, Guilherme, Capela, Ana Miguel, Fonseca, Liliana, Falcão Reis, Cláudia, Amaral, Cláudia

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Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients by Beleza-Meireles, Ana, Hart, Rachel, Clayton-Smith, Jill, Oliveira, Renata, Reis, Cláudia Falcão, Venâncio, Margarida, Ramos, Fabiana, Sá, Joaquim, Ramos, Lina, Cunha, Elizabete, Pires, Luís Miguel, Carreira, Isabel Marques, Scholey, Rachel, Wright, Ronnie, Urquhart, Jill E, Briggs, Tracy A, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Donnai, Dian, Newman, William G, Saraiva, Jorge Manuel, Tassabehji, May

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Parental gonadossomatic mosaicism in HIVEP2 -related intellectual disability and impact on genetic counseling-case report by Abreu, Maria, Branco, Tiago, Figueiroa, Sónia, Reis, Cláudia Falcão

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Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk by Sousa, Eulalia, Abreu, Maria, Tkachenko, Nataliya, Rocha, João, Falcão Reis, Cláudia

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Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome by Patrício Rodrigues, Inês, Teixeira, Beatriz, Capela, Ana Miguel, Almeida, Marta, Falcão Reis, Cláudia

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Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern by Luís, Telma, Candeias, Cristina, Domingues, Sara, Oliva-Teles, Natália, Mota, Céu, Reis, Cláudia Falcão

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Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype by Medeiros, Ana Margarida, Alves, Ana Catarina, Miranda, Beatriz, Chora, Joana Rita, Bourbon, Mafalda, Bourbon, Mafalda, Rato, Quitéria, Alves, Ana Catarina, Medeiros, Ana Margarida, Gomes, Ana Catarina, Ferreira, Ana Cristina, Gaspar, Ana, Marques, Ana Margarida, Garabal, Ana Maria, Bogalho, Ana Paula, Pereira, Ana Rita, Raimundo, Anabela, Travessa, André, Lopes, Andreia, Afonso, António, Furtado, António, Guerra, António, Monteiro, António, Trindade, António, Ribeiro, Armindo, Pereira, Bernardo Dias, Marques, Bernardo, Laranjeira, Carla, Moniz, Catarina Senra, Frutuoso, Cecília, Reis, Cláudia Falcão, Rodrigues, Cláudia, Fernandes, Clementina, Ferreira, Conceição, Ferreira, Daniel, Torres, Diogo, Martins, Elisabete, Gaspar, Elsa, Pimentel, Fabiana, Simões, Fernando, Araújo, Francisco, Silva, Francisco, Lobarinhas, Goreti, Morais, Graça, Gama, Guida, Lourenço, Guilherme, Mansilha, Helena, Pereira, Helena, Santos, Heloísa, Gomes, Inês Batista, Colaço, Inês, Azevedo, Isabel, Palma, Isabel, Anselmo, João, Porto, João, Ramos, João, Duarte, João Sequeira, Alves, Jorge Pintado, Salgado, José Miguel, de Moura, José Pereira, Sassetti, Leonor, Ramos, Lina Cardoso, Matos, Luísa Diogo, Vieira, Luísa Mota, Pires, Luísa, de Moura, Márcio, Bruges, Margarida, Venâncio, Margarida, Barroso, Maria do Rosário, Virtuoso, Maria João, Gonçalves, Maria Luísa, Oliveira, Mário Martins, Nunes, Mendes, Costa, Miguel, Mendes, Miguel, Rico, Miguel Toscano, Tavares, Mónica, Miguel, Natalina, Moldovan, Oana, Azevedo, Olga, Pinto, Patrícia Lipari, Pais, Patrícia, Vasconcelos, Patrícia, Garcia, Paula, Martins, Paula, da Silva, Pedro Marques, Lemos, Piedade, Coelho, Raquel, da Silva, Raquel Gouveia, Ribeiro, Raquel, de Oliveira, Rita Jotta, Pinto, Roberto, Pereira, Sandra, Cristina, Sérgio Ferreira, Sequeira, Sílvia, Correia, Susana, Vassalo, Tânia, Pack, Tiago, Martins, Vânia, Vieira, Vera Frazão

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1468 Alport syndrome family screening and management—experience of a tertiary center by Gomes, Ana Marta, Reis, Claúdia Falcão, Beirão, Idalina, Malheiro, Jorge, Lemos, Carolina, Lopes, Daniela, Ferreira, Graça, Santos, Helena, Leão, Miguel, Almeida, Clara

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Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center by Soares, Célia Azevedo, Tkachenko, Natália, Vale-Fernandes, Emídio, Barreiro, Márcia, Abreu, Maria, Reis, Cláudia Falcão, Soares, Gabriela, Fortuna, Ana Maria, Soares, Ana Rita

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Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report by Abreu, Maria, Branco, Tiago, Figueiroa, Sónia, Reis, Cláudia Falcão

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Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk by Sousa, Eulalia, Abreu, Maria, Tkachenko, Nataliya, Rocha, João, Falcão Reis, Cláudia

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5283 HNF1β MUTATIONS AND ASSOCIATED PHENOTYPES – WHAT TO LOOK FOR? by Salazar, Luis, Sousa, Bebiana, Ventura, Sofia, Miranda, Sofia Poço, Abreu, Maria, Mosca, Sara, Costa, Liane, Teixeira, Ana, Rocha, Liliana, Falcao-Reis, Claudia, Matos, Paula, Costa, Teresa, Faria, Maria Do Sameiro, Mota, Conceição

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Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling by Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, de Villemeur, Thierry Billette, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., den Hollander, Nicolette, Hoffer, Mariëtte J V, Reijnders, Margot R.F., Demirda, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Tezcan, Kamer, Schaefer, G. B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske

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Microbiological Profile of Infectious Keratitis in a Portuguese Tertiary Centre by Torrão, Luís, Tavares-Ferreira, João, Leuzinger-Dias, Mariana, Oliveira-Ferreira, Cláudia, Falcão-Reis, Fernando M.

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Best Fit Sphere Back and Adjusted Maximum Elevation of Corneal Back Surface as Novel Predictors of Keratoconus Progression by Ribeiro, Margarida, Barbosa, Cláudia, Correia, Paulo, Torrão, Luís, Neves Cardoso, Pedro, Moreira, Raúl, Falcão-Reis, Fernando, Falcão, Manuel, Pinheiro-Costa, João

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Scleral Fixation of Akreos AO60 Intraocular Lens Using Gore-Tex Suture: An Eye on Visual Outcomes and Postoperative Complications by Leuzinger-Dias, Mariana, Lima-Fontes, Mário, Rodrigues, Rita, Oliveira-Ferreira, Cláudia, Madeira, Carolina, Falcão-Reis, Fernando, Fernandes, Vítor, Rocha-Sousa, Amândio, Falcão, Manuel

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Choroidal Thickness and Urinary Albumin Excretion in Type 2 Diabetic Patients without Retinopathy by Falcão-Reis, Fernando M., Tavares-Ferreira, João, Leuzinger-Dias, Mariana, Oliveira-Ferreira, Cláudia, Rocha-Sousa, A.

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Adherence to antiretroviral therapy in people living with HIV with moderate or severe mental disorder by Arashiro, Priscilla, Maciel, Camila Guadeluppe, Freitas, Fernanda Paes Reis, Koch, Gabriel Serrano Ramires, da Cunha, João Cesar Pereira, Stolf, Anderson Ravy, Paniago, Anamaria Mello Miranda, de Medeiros, Márcio José, Santos-Pinto, Cláudia Du Bocage, de Oliveira, Everton Falcão

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High positivity values for bovine leukemia virus in human breast cancer cases from Minas Gerais, Brazil by Delarmelina, Emília, Buzelin, Marcelo Araújo, Souza, Breno Samuel de, Souto, Francielli Martins, Bicalho, Juliana Marques, Câmara, Rebeca Jéssica Falcão, Resende, Cláudia Fideles, Bueno, Bruna Lopes, Victor, Raphael Mattoso, Galinari, Grazielle Cossenzo Florentino, Nunes, Cristiana Buzelin, Leite, Rômulo Cerqueira, Costa, Érica Azevedo, Reis, Jenner Karlisson Pimenta dos

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Low transmission rates of Equine infectious anemia virus (EIAV) in foals born to seropositive feral mares inhabiting the Amazon delta region despite climatic conditions supporting... by Resende, Cláudia Fideles, Santos, Alison Miranda, Cook, Richard Frank, Victor, Raphael Mattoso, Câmara, Rebeca Jéssica Falcão, Gonçalves, Gilberto Pereira, Lima, Juliana Gonçalves, Maciel e Silva, André Guimarães, Leite, Romulo Cerqueira, dos Reis, Jenner Karlisson Pimenta

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