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Dr Luca SANGIORGI
Function(s)
- Coordinator of expert centre
- Coordinator of expert centre network
- Coordinator of research network
- Expert reviewer for Orphanet
- Manager of biobank/collection
- Manager of registry
- Responsible for diagnostic tests
Activity(ies) registered in Orphanet:
Legend: Activity terminated
- Registro della malattia di Ollier e della sindrome di Maffucci - ROM
- Registro della sindrome di Ehlers-Danlos - RED
- Registro Italiano per le displasie scheletriche
- Registro della Sindrome di Li-Fraumeni e Li-Fraumeni like - ReLF
- Registro Nazionale della malattia esostosante - REM
- Registro dell'Osteogenesi Imperfetta - ROI
Expert reviewer for Orphanet
- ORPHA163634 - Maffucci syndrome
- ORPHA2614 - Nail-patella syndrome
- ORPHA296 - Ollier disease
- ORPHA90796 - 46,XY difference of sex development due to isolated 17,20-lyase deficiency
Institution(s) where activities are/were carried out
Struttura Complessa Malattie Rare Scheletriche
Istituto Ortopedico Rizzoli - Ospedale
Via Giulio Cesare Pupilli 1
40136 BOLOGNA
ITALY
Phone 1:
+39 051 6366681
Phone 2:
+39 051 6366062
Contact email:
genetica@ior.it
Institution's website
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Via di Barbiano 1/10
40136 BOLOGNA
ITALY
Phone 1:
390 516 366 039
Contact email:
laboratorio.genetica@ior.it
Institution's website
ERN BOND Coordinating Center
Istituto Ortopedico Rizzoli - Ospedale
Via Giulio Cesare Pupilli 1
40136 BOLOGNA
ITALY
Phone 1:
393 311 728 796
Contact email:
info@ernbond.eu
Institution's website