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Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. [electronic resource] by
- Jeannin, Guido
- Chiarelli, Nicola
- Gaggiotti, Mario
- Ritelli, Marco
- Maiorca, Paolo
- Quinzani, Stefano
- Verzeletti, Federica
- Possenti, Stefano
- Colombi, Marina
- Cancarini, Giovanni
Producer: 20140319
In:
BMC medical genetics vol. 15
Availability: No items available.
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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. [electronic resource] by
- Ritelli, Marco
- Dordoni, Chiara
- Venturini, Marina
- Chiarelli, Nicola
- Quinzani, Stefano
- Traversa, Michele
- Zoppi, Nicoletta
- Vascellaro, Annalisa
- Wischmeijer, Anita
- Manfredini, Emanuela
- Garavelli, Livia
- Calzavara-Pinton, Piergiacomo
- Colombi, Marina
Producer: 20140102
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. [electronic resource] by
- Ritelli, Marco
- Chiarelli, Nicola
- Dordoni, Chiara
- Reffo, Elena
- Venturini, Marina
- Quinzani, Stefano
- Monica, Matteo Della
- Scarano, Gioacchino
- Santoro, Giuseppe
- Russo, Maria Giovanna
- Calzavara-Pinton, Piergiacomo
- Milanesi, Ornella
- Colombi, Marina
Producer: 20150702
In:
BMC medical genetics vol. 15
Availability: No items available.
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