Nascer e Crescer

p

	· X-Chromosome: Genetic Framing Regateiro, Fernando · · ( pdf )

	· X-Imbalances big and small Leeuw, Nicole de · · ( pdf )

	· Unravelling the X Files: Challenges and Dilemmas Carreira, Isabel M. · · ( pdf )

	· An Introduction to X-linked IMDS Waldek, Stephen · · ( pdf )

	· Martins, Esmeralda · \| · ( pdf )

	· Laranjeira, Francisco · \| · ( pdf )

	· Antisense-mediated exon skipping for duchenne muscular dystrophy: clinical trials and beyond Aartsma-Rus, Annemieke · · ( pdf )

	· Discovering “X” in the myopathic equation Oliveira, Jorge · · ( pdf )

	· *FMR1* associated pathologies Milà, Montserrat · · ( pdf )

	· Genetic counseling Sousa, Ana Berta · · ( pdf )

	· Teles, Natália Oliva · \| · ( pdf )

	· Serrão, Daniel · \| · ( pdf )

p

	· Study of the FMR1 gene structure among women with ovarian dysfunction from the basque country Barasoain, Maitane; Barrenetxea, Gorka; Huerta, Iratxe; Télez, Mercedes; Carrillo, Amaia; Pérez, Cristina; Ortiz-Lastra, Eduardo; González, Javier; Criado, Begoña; Arrieta, Isabel · · ( pdf )

p

	· Investigation of X-chromosome inactivation patterns: a valuable tool in genetic diagnosis Gonçalves, Ana; Jorge, Paula; Santos, Rosário · · ( pdf )

	· Next generation fragile-X testing: getting away from southern blots Maia, Nuno; Marques, Isabel; Jorge, Paula; Santos, Rosário · · ( pdf )

	· Portuguese patient registry for duchenne/ becker muscular dystrophy Oliveira, Jorge; Gonçalves, Ana; Moreno, Teresa; Santos, Manuela; Fineza, Isabel; Santos, Rosário · · ( pdf )

	· Oliveira, Pedro; Jorge, Joana; Queirós, Otília · \| · ( pdf )

	· Craniofrontonasal syndrome: case report Soares, Gabriela; Tkachenko, Natália; Fortuna, Ana Maria · · ( pdf )

	· Tkachenko, Natália; Soares, Gabriela; Silva, Maria da Luz; Martins, Teresa; Fortuna, Ana Maria · \| · ( pdf )

	· Lopes, Lurdes; Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Vilarinho, Laura · \| · ( pdf )

	· XL-EDMD genotypic spectrum among portuguese patients Vieira, Emília; Gonçalves, Ana; Bronze-da-Rocha, Elsa; Santos, Rosário · · ( pdf )

	· MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling Sá, Maria João; Soares, Ana Rita; Soares, Gabriela; Fortuna, Ana Maria; Taipa, Ricardo; Pires, Manuel Melo; Oliveira, Jorge; Santos, Rosário; Santos, Manuela; Garrido, Cristina · · ( pdf )

	· Prenatal diagnosis: a case of partial trisomy 6Q Leite, Rosário Pinto; Botelho, Pedro; Souto, Marta; Nogueira, Rosete; Carvalho, António; Moutinho, Osvaldo; Martins, Márcia · · ( pdf )

	· Mutation analysis of genes involved in sperm motility: a study in patients with total sperm immotility Pereira, Rute; Oliveira, Jorge; Santos, Rosário; Alves, Ângela; Oliveira, Elsa; Ferraz, Luís; Barros, Alberto; Sousa, Mário · · ( pdf )

	· Prenatal diagnosis mosaic 45, X case with a marker chromosome Pinto, Joel; Moreira, Maria Lina; Barbosa, Ana; Ventura, Vânia; Neto, Ana Paula; Ramalho, Carla; Barros, Alberto; Dória, Soﬁa · · ( pdf )

	· X-linked icthyosis: a metabolic ethiology for “dry skin” Caseiro, Carla; Sales, Jorge; Ribeiro, Helena; Silva, Elisabete; Sousa, Domingos; Lacerda, Lúcia · · ( pdf )

	· Mosaicism with two X chromosome different rearrangements and a turner-like phenotype: case report Pires, Sílvia; Teles, Natália Oliva; Freitas, Manuela Mota; Cardoso, Cátia; Silva, Maria da Luz Fonseca e · · ( pdf )

	· Distal XQ27->Q28 duplication and functional disomy: clinical and cytogenetic characterization Oliveira, Fernanda Paula; Ribeiro, Maria do Céu; Teles, Natália Oliva; Fortuna, Ana Maria; Pinto, Maximina Rodrigues; Silva, Maria da Luz Fonseca e · · ( pdf )

	· Clinical, biochemical and molecular studies: stepwise to achieve diagnosis of fabry disease Ribeiro, Isaura; Rocha, Sónia; Ferreira, Célia; Pinto, Eugénia; Silva, Elisabete; Pinto, Fernanda; Ribeiro, Helena; Sousa, Domingos; Pacheco, Sara; Laranjeira, Francisco; Caseiro, Carla; Lacerda, Lúcia · · ( pdf )

	· Hunter syndrome, the most prevalent mucopolysaccharidosis in portugal Rocha, Sónia; Caseiro, Carla; Ribeiro, Isaura; Pinto, Eugénia; Ferreira, Célia; Ribeiro, Helena; Silva, Elisabete; Pinto, Fernanda; Pacheco, Sara; Sousa, Domingos; Laranjeira, Francisco; Lacerda, Lúcia · · ( pdf )

	· Laranjeira, Francisco; Quelhas, Dulce; Pinto, Eugénia; Ribeiro, Helena; Ribeiro, Isaura; Pacheco, Sara; Lacerda, Lúcia · \| · ( pdf )