MAN1B1 deficiency: an unexpected CDG-II von Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert

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A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation von Paneque, Milena, Carvalho, Márcia, Rodrigues, Fidjy, Saraiva, Jorge, Leonardo, Alexandra, Sousa, Ana B., Machado, Vânia, Gonçalves-Rocha, Miguel, Sequeiros, Jorge, Costa, Patrício Soares, Serra de Lemos, Marina

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Isotretinoin embryopathy: report of one case von Cláudia Patraquim, Albina Silva, Ângela Pereira, Miguel Gonçalves-Rocha, João Fernandes, Almerinda Pereira

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A Case of IFAP Syndrome with Severe Atopic Dermatitis von Vieira, Ana Paula, Resende, Cristina, Gonçalves-Rocha, Miguel, Araújo, Catarina, Brito, Celeste

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Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease von Lopes, Fátima, Soares, Gabriela, Gonçalves-Rocha, Miguel, Pinto-Basto, Jorge, Maciel, Patrícia

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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field von El Malti, Rajae, Liu, Hui, Doray, Bérénice, Thauvin, Christel, Maltret, Alice, Dauphin, Claire, Gonçalves-Rocha, Miguel, Teboul, Michel, Blanchet, Patricia, Roume, Joëlle, Gronier, Céline, Ducreux, Corinne, Veyrier, Magali, Marçon, François, Acar, Philippe, Lusson, Jean-René, Levy, Marilyne, Beyler, Constance, Vigneron, Jacqueline, Cordier-Alex, Marie-Pierre, Heitz, François, Sanlaville, Damien, Bonnet, Damien, Bouvagnet, Patrice

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Goldenhar syndrome: a rare diagnosis with possible prenatal findings von Ribeiro, Bárbara, Igreja, Joana, Gonçalves-Rocha, Miguel, Cadilhe, Alexandra

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Stickler syndrome: case report von Vasco Carvalho, Diana Rita Oliveira, Marta Ribeiro Silva, Lídia Leite, Miguel Gonçalves Rocha, Liliana Pinheiro, Almerinda Pereira

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New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy von Gonçalves-Rocha, Miguel, Oliveira, Jorge, Rodrigues, Luísa, Santos, Rosário

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Recommendations for genetic testing in cardiology: Review of major international guidelines von Sousa, Alexandra, Moldovan, Oana, Lebreiro, Ana, Bourbon, Mafalda, António, Natália, Rato, Quitéria, Rodrigues, Patrícia, Toste, Alexandra, Gonçalves Rocha, Miguel, Oliveira, Renata, Granja, Sofia, Cruz, Cristina, Almeida, Jorge, Martins, Elisabete

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Recomendações para a realização de testes genéticos em cardiologia – revisão das principais diretrizes internacionais von Alexandra Sousa, Oana Moldovan, Ana Lebreiro, Mafalda Bourbon, Natália António, Quitéria Rato, Patrícia Rodrigues, Alexandra Toste, Miguel Gonçalves Rocha, Renata Oliveira, Sofia Granja, Cristina Cruz, Jorge Almeida, Elisabete Martins

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Recommendations for genetic testing in cardiology: Review of major international guidelines von Sousa, Alexandra, Moldovan, Oana, Lebreiro, Ana, Bourbon, Mafalda, António, Natália, Rato, Quitéria, Rodrigues, Patrícia, Toste, Alexandra, Gonçalves Rocha, Miguel, Oliveira, Renata, Granja, Sofia, Cruz, Cristina, Almeida, Jorge, Martins, Elisabete

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MAN1B1 Deficiency: An Unexpected CDG-II von Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert

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MAN1B1 Deficiency: An Unexpected CDG-II: e1003989 von Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert

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Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease von Lopes, Fátima Daniela Teixeira, Soares, Gabriela, Rocha, Miguel Gonçalves, Basto, Jorge Pinto, Maciel, P.

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Recomendações para a realização de testes genéticos em cardiologia – revisão das principais diretrizes internacionais von Sousa, Alexandra, Moldovan, Oana, Lebreiro, Ana, Bourbon, Mafalda, António, Natália, Rato, Quitéria, Rodrigues, Patrícia, Toste, Alexandra, Gonçalves Rocha, Miguel, Oliveira, Renata, Granja, Sofia, Cruz, Cristina, Almeida, Jorge, Martins, Elisabete

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Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria von Jenkinson, Emma, Livingston, John H, O'Driscoll, Mary C, Desguerre, Isabelle, Nabbout, Rima, Boddaert, Nathalie, Soares, Gabriela, Gonçalves da Rocha, Miguel, D'Arrigo, Stefano, Rice, Gillian, Crow, Yanick

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Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease von Lopes, Fátima, Soares, Gabriela, Gonçalves-Rocha, Miguel, Pinto-Basto, Jorge, Maciel, Patrícia

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MAN1B1 deficiency: an unexpected CDG-II von Rymen, Daisy, Peanne, Romain, Million, Maria B, Race, Valerie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie- Cecile, Goncalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, Francois, Matthijs, Gert

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Screening for Gastric Cancer and Surveillance of Premalignant Lesions: a Systematic Review of Cost-Effectiveness Studies von Areia, Miguel, Carvalho, Rita, Cadime, Ana Teresa, Rocha Gonçalves, Francisco, Dinis-Ribeiro, Mário

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