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A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. [electronic resource] by
- Mirabelli-Badenier, Marisol
- Severino, Mariasavina
- Tappino, Barbara
- Tortora, Domenico
- Camia, Francesca
- Zanaboni, Clelia
- Brera, Fabia
- Priolo, Enrico
- Rossi, Andrea
- Biancheri, Roberta
- Di Rocco, Maja
- Filocamo, Mirella
Producer: 20160401
In:
Metabolic brain disease vol. 30
Availability: No items available.
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7.
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A prospective observational study of associated anomalies in Hirschsprung's disease. [electronic resource] by
- Pini Prato, Alessio
- Rossi, Valentina
- Mosconi, Manuela
- Holm, Catarina
- Lantieri, Francesca
- Griseri, Paola
- Ceccherini, Isabella
- Mavilio, Domenico
- Jasonni, Vincenzo
- Tuo, Giulia
- Derchi, Maria
- Marasini, Maurizio
- Magnano, Gianmichele
- Granata, Claudio
- Ghiggeri, Gianmarco
- Priolo, Enrico
- Sposetti, Lorenza
- Porcu, Adelina
- Buffa, Piero
- Mattioli, Girolamo
Producer: 20140717
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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