Sfoglia per Autore
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
2013-01-01 Ritelli, Marco Giuseppe; Dordoni, Chiara; Venturini, Marina; Chiarelli, Nicola; Quinzani, Stefano; Traversa, Michele; Zoppi, Nicoletta; Vascellaro, Annalisa; Wischmeijer, A.; Manfredini, E.; Garavelli, L.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa
2013-01-01 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
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.
2014-01-01 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Dordoni, Chiara; Reffo, E; Venturini, Marina; Quinzani, Stefano; Monica, M; Scarano, G; Santoro, G; Russo, M; CALZAVARA PINTON, Piergiacomo; Milanesi, O; Colombi, Marina
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type
2015-01-01 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. | 1-gen-2013 | Ritelli, Marco Giuseppe; Dordoni, Chiara; Venturini, Marina; Chiarelli, Nicola; Quinzani, Stefano; Traversa, Michele; Zoppi, Nicoletta; Vascellaro, Annalisa; Wischmeijer, A.; Manfredini, E.; Garavelli, L.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa | 1-gen-2013 | Ritelli, Marco Giuseppe; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina | |
| 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. | 1-gen-2014 | Ritelli, Marco Giuseppe; Chiarelli, Nicola; Dordoni, Chiara; Reffo, E; Venturini, Marina; Quinzani, Stefano; Monica, M; Scarano, G; Santoro, G; Russo, M; CALZAVARA PINTON, Piergiacomo; Milanesi, O; Colombi, Marina | |
| Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type | 1-gen-2015 | Ritelli, Marco Giuseppe; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Colombi, Marina |
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