Results
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46541.
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46542.
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46543.
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46544.
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46546.
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46547.
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46548.
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46549.
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Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. [electronic resource] by
- Wolf, Barry
- Jensen, Kevin P
- Barshop, Bruce
- Blitzer, Miriam
- Carlson, Martha
- Goudie, David R
- Gokcay, Gulden Huner
- Demirkol, Mubeccel
- Baykal, Tolunay
- Demir, F
- Quary, Sharon
- Shih, Ling Yu
- Pedro, Helio F
- Chen, Tsui-Hua H
- Slonim, Alfred E
Producer: 20060717
In:
Human mutation vol. 25
Availability: No items available.
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46550.
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46551.
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46552.
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46553.
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Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. [electronic resource] by
- Witsch-Baumgartner, M
- Clayton, P
- Clusellas, N
- Haas, D
- Kelley, R I
- Krajewska-Walasek, M
- Lechner, S
- Rossi, M
- Zschocke, J
- Utermann, G
Producer: 20060717
In:
Human mutation vol. 25
Availability: No items available.
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46554.
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46555.
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46556.
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