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Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants. [electronic resource] by
- Sampat, Radhika
- Fu, Rong
- Larovere, Laura E
- Torres, Rosa J
- Ceballos-Picot, Irene
- Fischbach, Michel
- de Kremer, Raquel
- Schretlen, David J
- Puig, Juan Garcia
- Jinnah, H A
Producer: 20110202
In:
Human genetics vol. 129
Availability: No items available.
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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings. [electronic resource] by
- Silvera-Ruiz, Silene M
- Arranz, José A
- Häberle, Johannes
- Angaroni, Celia J
- Bezard, Miriam
- Guelbert, Norberto
- Becerra, Adriana
- Peralta, Fernanda
- de Kremer, Raquel Dodelson
- Laróvere, Laura E
Producer: 20200427
In:
Orphanet journal of rare diseases vol. 14
Availability: No items available.
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7.
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Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. [electronic resource] by
- Fu, Rong
- Ceballos-Picot, Irene
- Torres, Rosa J
- Larovere, Laura E
- Yamada, Yasukazu
- Nguyen, Khue V
- Hegde, Madhuri
- Visser, Jasper E
- Schretlen, David J
- Nyhan, William L
- Puig, Juan G
- O'Neill, Patrick J
- Jinnah, H A
Producer: 20140609
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
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8.
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Attenuated variants of Lesch-Nyhan disease. [electronic resource] by
- Jinnah, H A
- Ceballos-Picot, Irene
- Torres, Rosa J
- Visser, Jasper E
- Schretlen, David J
- Verdu, Alfonso
- Laróvere, Laura E
- Chen, Chung-Jen
- Cossu, Antonello
- Wu, Chien-Hui
- Sampat, Radhika
- Chang, Shun-Jen
- de Kremer, Raquel Dodelson
- Nyhan, William
- Harris, James C
- Reich, Stephen G
- Puig, Juan G
Producer: 20100413
In:
Brain : a journal of neurology vol. 133
Availability: No items available.
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