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Author/Creator Dordoni, C.

1. Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa. (31st January 2013)

Authors:
Ritelli, M.; Chiarelli, N.; Quinzani, S.; Dordoni, C.; Venturini, M.; Calzavara‐Pinton, P.; Colombi, M.
Journal:
British journal of dermatology
Issue:
Volume 168:Number 4(2013:Apr.)
Page Start:
904
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. OP05.08: Role of chromosomal microarrays analysis in identifying pathogenetic variants in fetuses with single or multiple ultrasound abnormalities. (30th September 2019)

Authors:
Azzaretto, V.; Vitucci, A.; Cavalli, C.; Izzi, C.; Signorelli, M.; Prefumo, F.; Fichera, A.; Dordoni, C.; Zanatta, V.; Grati, F.; Sartori, E.
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 54(2019)Supplement 1
Page Start:
100
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients. Issue 6 (4th September 2017)

Authors:
Colombi, M.; Dordoni, C.; Venturini, M.; Ciaccio, C.; Morlino, S.; Chiarelli, N.; Zanca, A.; Calzavara‐Pinton, P.; Zoppi, N.; Castori, M.; Ritelli, M.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 6(2017)
Page Start:
624
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗