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	1.	Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. [electronic resource] by Sá, Maria João Nabais Rocha, Júlio C Almeida, Manuela F Carmona, Carla Martins, Esmeralda Miranda, Vasco Coutinho, Miguel Ferreira, Rita Pacheco, Sara Laranjeira, Francisco Ribeiro, Isaura Fortuna, Ana Maria Lacerda, Lúcia Producer: 20160512 In: JIMD reports vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome. [electronic resource] by Sá, Maria João Nabais Fieremans, Nathalie de Brouwer, Arjan P M Sousa, Rita e Costa, Fernando Teixeira Brito, Maria José Carvalho, Fernanda Rodrigues, Márcia de Sousa, Francisco Teixeira Felgueiras, Joana Neves, Fernando Carvalho, Adelino Ramos, Umbelina Vizcaíno, José Ramón Alves, Susana Carvalho, Filipa Froyen, Guy Oliveira, João Paulo Producer: 20140714 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Genomic imbalances defining novel intellectual disability associated loci. [electronic resource] by 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 Producer: 20200427 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)