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The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. [electronic resource] by
- Di Fonzo, Alessio
- Ronchi, Dario
- Lodi, Tiziana
- Fassone, Elisa
- Tigano, Marco
- Lamperti, Costanza
- Corti, Stefania
- Bordoni, Andreina
- Fortunato, Francesco
- Nizzardo, Monica
- Napoli, Laura
- Donadoni, Chiara
- Salani, Sabrina
- Saladino, Francesca
- Moggio, Maurizio
- Bresolin, Nereo
- Ferrero, Iliana
- Comi, Giacomo P
Producer: 20090609
In:
American journal of human genetics vol. 84
Availability: No items available.
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5954.
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5955.
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Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. [electronic resource] by
- Twigg, Stephen R F
- Versnel, Sarah L
- Nürnberg, Gudrun
- Lees, Melissa M
- Bhat, Meenakshi
- Hammond, Peter
- Hennekam, Raoul C M
- Hoogeboom, A Jeannette M
- Hurst, Jane A
- Johnson, David
- Robinson, Alexis A
- Scambler, Peter J
- Gerrelli, Dianne
- Nürnberg, Peter
- Mathijssen, Irene M J
- Wilkie, Andrew O M
Producer: 20090609
In:
American journal of human genetics vol. 84
Availability: No items available.
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5956.
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5957.
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5958.
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5959.
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Endoscopic hemostatic devices. [electronic resource] by
- Conway, Jason D
- Adler, Douglas G
- Diehl, David L
- Farraye, Francis A
- Kantsevoy, Sergey V
- Kaul, Vivek
- Kethu, Sripathi R
- Kwon, Richard S
- Mamula, Petar
- Rodriguez, Sarah A
- Tierney, William M
Producer: 20090806
In:
Gastrointestinal endoscopy vol. 69
Availability: No items available.
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5960.
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