Nascer e Crescer

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	· Mechanisms of primary ovarian insufficiency Christin-Maitre, Sophie · \| · ( pdf )

	· Louro, Nuno · \| · ( pdf )

	· Toxic RNA and myotonic dystrophy: from the dissection of disease mechanisms to the development of novel therapeutic strategies Gomes-Pereira, Mário · · ( pdf )

	· Pires, Manuel Melo · \| · ( pdf )

	· Coelho, Teresa · \| · ( pdf )

	· New therapeutic approaches in adult neuromuscular disorders Evangelista, Teresinha · · ( pdf )

	· 140 years since the identification of Gaucher disease: what is there left to learn? Futerman, Tony · · ( pdf )

	· Carrier screening: will it be possible to eliminate autosomal recessive disorders? Ferreira, José Carlos · · ( pdf )

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	· Diagnosis of neurometabolic disorders through next generation sequencing panels and bioinformatics tools: two years of experience Gouveia, Sofia; Fernández-Marmiesse, Ana; Otero, Iria; Cocho, Juan; Castiñeiras, Daisy; Fraga, José; Couce, Mª Luz · · ( pdf )

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	· Bagueixa, Mónica · \| · ( pdf )

	· Tkachenko, Natália; Soares, Gabriela; Sá, Maria João; Soares, Ana Rita; Fortuna, Ana Maria · \| · ( pdf )

	· Recessive TTN truncating mutation define a novel antenatal severe form of “CAP-myopathy” in absence of heart disease Fernández-Marmiesse, Ana; Carrascosa-Romero, M. Carmen; Roca, Iria; Gouveia, Sofia; Pico, Mª Luz Couce · · ( pdf )

	· Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies Gouveia, Sofia; Fernández-Marmiesse, Ana; Otero, Iria; Cocho, Juan; Castiñeiras, Daisy; Fraga, José; Couce, Mª Luz · · ( pdf )

	· Long-term follow-up of individuals with Williams-Beuren syndrome: facilitate transition from pediatric medicine to adult medicine (a case report) Carmona, Carla; Saraiva, Teresa; Fortuna, Ana · · ( pdf )

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

	· Botelho, Pedro; Souto, Marta; Arantes, Regina; Martins, Márcia; Gomes, Zélia; Moutinho, Osvaldo; Leite, Rosário Pinto · \| · ( pdf )

	· Infertility: importance of cytogenetic study Souto, Marta; Botelho, Pedro; Arantes, Regina; Gomes, Zélia; Martins, Márcia; Moutinho, Osvaldo; Leite, Rosário Pinto · · ( pdf )

	· Male infertility and chromosome aberrations: two case reports Oliveira, Fernanda Paula; Teles, Natália Oliva; Freitas, Manuela Mota; Soares, Gabriela; Silva, Maria da Luz Fonseca e · · ( pdf )

	· Autosome-autosome reciprocal translocation: implications in the fertility Pires, Sílvia; Teles, Natália Oliva; Louro, Nuno; Silva, Maria da Luz Fonseca e · · ( pdf )

	· Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families Oliveira, Márcia E.; Maia, Nuno; Marques, Isabel; Santos, Rosário · · ( pdf )

	· High phenotypic variability in two siblings with spinal muscular atrophy Saraiva, Teresa; Oliveira, Jorge; Oliveira, Márcia E.; Soares, Ana; Santos, Rosário; Fortuna, Ana · · ( pdf )

	· Pregnancy in a patient with distal arthrogryposis type 2B: clinical diagnosis, prenatal diagnosis and genetic counseling Rodrigues, Márcia; Antunes, Diana; Carvalho, Inês; Freixo, João; Amorim, Marta; Lourenço, Teresa; Bernardo, Ana; Nunes, Luís · · ( pdf )

	· Whole-exome sequencing analysis of adult patients with rare genetic diseases: what have we learned? Oliveira, Jorge; Negrão, Luís; Pereira, Rute; Barros, Alberto; Sousa, Mário; Santos, Rosário · · ( pdf )

	· *Phenotypic spectrum of DCX* pathogenic mutations in females: from childhood to adulthood clinical onset** Sá, Maria João; Chorão, Rui; Santos, Manuela; Fortuna, Ana Maria; Soares, Gabriela · · ( pdf )

	· A portuguese family with CADASIL diagnosis with anticipation age of onset observed Lopes-de-Almeida, Maria; Ramos, Lina; Cordeiro, Gustavo; Almeida, Rosário; Sá, Joaquim; Saraiva, Jorge M · · ( pdf )

	· Lujan-Fryns and Opitz-Kaveggia syndromes: *MED12* molecular screening Paulino, Cathy; Marques, Isabel; Chaves, Raquel; Jorge, Paula; Santos, Rosário · · ( pdf )

	· Teixeira, Cláudia; Barbot, José; Freitas, Maria Inês · \| · ( pdf )

	· Frontotemporal dementia and neuronal ceroid lipofuscinosis Carvalho, Ana Luísa; Ramos, Lina; Venâncio, Maria Margarida; Santana, Isabel; Macário, Carmo; Almeida, Rosário; Saraiva, Jorge · · ( pdf )

	· Caseiro, Carla; Laranjeira, Francisco; Silva, Elisabete; Ribeiro, Helena; Ferreira, Célia; Pinto, Fernanda; Ribeiro, Isaura; Sousa, Domingos; Rocha, Sónia; Pinto, Eugénia; Pacheco, Sara; Quelhas, Dulce; Lacerda, Lúcia · \| · ( pdf )

	· Intronic long interspersed nuclear element (LINE-1) insertion in the DMD gene as a cause of Becker muscular dystrophy Gonçalves, Ana; Coelho, Teresa; Oliveira, Jorge; Vieira, Emília; Taipa, Ricardo; Pires, Manuel Melo; Rocha, Elsa Bronze da; Santos, Rosário · · ( pdf )

	· Rocha, Sónia; Laranjeira, Francisco; Caseiro, Carla; Ribeiro, Isaura; Pinto, Eugénia; Ferreira, Célia; Ribeiro, Helena; Quelhas, Dulce; Lacerda, Lúcia · \| · ( pdf )