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Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. [electronic resource] by
- Oliveira, Jorge
- Oliveira, Márcia E
- Kress, Wolfram
- Taipa, Ricardo
- Pires, Manuel Melo
- Hilbert, Pascale
- Baxter, Peter
- Santos, Manuela
- Buermans, Henk
- den Dunnen, Johan T
- Santos, Rosário
Producer: 20131017
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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Atypical phenotype in two patients with LAMA2 mutations. [electronic resource] by
- Marques, Joana
- Duarte, Sofia T
- Costa, Sónia
- Jacinto, Sandra
- Oliveira, Jorge
- Oliveira, Márcia E
- Santos, Rosário
- Bronze-da-Rocha, Elsa
- Silvestre, Ana Rita
- Calado, Eulália
- Evangelista, Teresinha
Producer: 20141210
In:
Neuromuscular disorders : NMD vol. 24
Availability: No items available.
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13.
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New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. [electronic resource] by
- Oliveira, Jorge
- Gonçalves, Ana
- Taipa, Ricardo
- Melo-Pires, Manuel
- Oliveira, Márcia E
- Costa, José Luís
- Machado, José Carlos
- Medeiros, Elmira
- Coelho, Teresa
- Santos, Manuela
- Santos, Rosário
- Sousa, Mário
Producer: 20170406
In:
Journal of human genetics vol. 61
Availability: No items available.
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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. [electronic resource] by
- Oliveira, Jorge
- Gruber, Angela
- Cardoso, Márcio
- Taipa, Ricardo
- Fineza, Isabel
- Gonçalves, Ana
- Laner, Andreas
- Winder, Thomas L
- Schroeder, Jocelyn
- Rath, Julie
- Oliveira, Márcia E
- Vieira, Emília
- Sousa, Ana Paula
- Vieira, José Pedro
- Lourenço, Teresa
- Almendra, Luciano
- Negrão, Luís
- Santos, Manuela
- Melo-Pires, Manuel
- Coelho, Teresa
- den Dunnen, Johan T
- Santos, Rosário
- Sousa, Mário
Producer: 20190813
In:
Human mutation vol. 39
Availability: No items available.
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