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PROGRAM
10.45
- Communications and comment about the 2008 SIGU
meeting (R. Tenconi,
Padova)
- Presentazione del documento della commissione qualità per la Genetica
clinica e proposte (E. Di Maria)
pdf file
11.00
Seminars
- Clinical genetics and high throughput sequencing (O. Zuffardi, Pavia)
ppt file
- Genome wide array in prenatal diagnosis: experiences
and different opinions (O. Zuffardi, Pavia; A. Renieri, Siena; M. Zollino, Roma;
B. Dallapiccola, Roma)
ppt file;
ppt file
-
Cutaneous mosaicisms (C. Schepis, IRCCS Troina)
ppt file
13:10
Lunch
13.50
Educational
- Gestaltic test of malformation syndromes (M. Priolo, Reggio Calabria)
- The first 5 news from the 2008 Philadelphia ASHG meeting (A. Renieri,
Siena)
14.10
Professional experiences in other countries:
- Skeletal dysplasias at Hôpital Necker Enfants Malades, Paris: M.
Bertoli (Torvergata, Roma)
Papers in press
Paper submitted and last minute
News from the ASHG meeting in Philadelphia (A. Renieri, Siena)
14.15
Follow-up of previously presented cases:
| Presented by |
Diagnostic suspicion |
Discussant |
| L. Garavelli (Reggio Emilia) |
Goltz-Gorlin s.?
presented on October 6th, 2008 |
M. Della Monica |
Presentation and discussion of new cases:
| Presented by |
Diagnostic suspicion |
Discussant |
| K. Ludwig (R. Tenconi, Padova) |
Ectodermal Dysplasia |
C. Schepis |
| L. Garavelli (Reggio
Emilia) |
MADA? |
C. Romano |
| G. Marangi (M. Zollino, Roma) |
Rett s.? |
A. Renieri |
| A. Marozza (A. Renieri, Siena) |
Noonan phenotype |
R. Tenconi |
17.00
Closing session and exchange of wishes for the season
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