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1301.
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1302.
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Selenoprotein-related disease in a young girl caused by nonsense mutations in the SBP2 gene. [electronic resource] by
- Azevedo, Monalisa Ferreira
- Barra, Gustavo Barcelos
- Naves, Luciana Ansaneli
- Ribeiro Velasco, Lara Franciele
- Godoy Garcia Castro, Patrícia
- de Castro, Luiz Claudio Gonçalves
- Amato, Angélica Amorim
- Miniard, Angela
- Driscoll, Donna
- Schomburg, Lutz
- de Assis Rocha Neves, Francisco
Producer: 20100824
In:
The Journal of clinical endocrinology and metabolism vol. 95
Availability: No items available.
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1316.
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1320.
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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. [electronic resource] by
- Kessler, Kristin
- Wunderlich, Ina
- Uebe, Steffen
- Falk, Nathalie S
- Gießl, Andreas
- Brandstätter, Johann Helmut
- Popp, Bernt
- Klinger, Patricia
- Ekici, Arif B
- Sticht, Heinrich
- Dörr, Helmuth-Günther
- Reis, André
- Roepman, Ronald
- Seemanová, Eva
- Thiel, Christian T
Producer: 20160704
In:
Scientific reports vol. 5
Availability: No items available.
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