Showing 1–10 of 10 results
-
Research |
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva
- Nathalie Bravenboer
- , Dimitra Micha
- , James T Triffit
- , Alex N Bullock
- , Roberto Ravazollo
- , Renata Bocciardi
- , Maja di Rocco
- , J Coen Netelenbos
- , Peter Ten Dijke
- , Gonzalo Sánchez-Duffhues
- , Fred S Kaplan
- , Eileen M Shore
- , Robert J Pignolo
- , Petra Seemann
- , Francesc Ventura
- , Genevieve Beaujat
- , Elizabeth M W Eekhoff
- & Gerard Pals
-
Heterogeneity and Low Detection Rate of RET Mutations in Hirschsprung Disease
- Luo Yin
- , Virginia Barone
- , Marco Seri
- , Alessandra Bolino
- , Renata Bocciardi
- , Isabella Ceccherini
- , Barbara Pasini
- , Tatiana Tocco
- , Margherita Lerone
- , Sidney Cywes
- , Sam Moore
- , Jean Marie Vanderwinden
- , Marc Joël Abramowicz
- , Ulf Kristoffersson
- , Lars T. Larsson
- , Ben C. J. Hamel
- , Margherita Silengo
- , Giuseppe Martucciello
- & Giovanni Romeo
-
Research |
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents
- Monica Marini
- , Renata Bocciardi
- , Stefania Gimelli
- , Marco Di Duca
- , Maria T Divizia
- , Anwar Baban
- , Harald Gaspar
- , Isabella Mammi
- , Livia Garavelli
- , Roberto Cerone
- , Francesco Emma
- , Maria F Bedeschi
- , Romano Tenconi
- , Alberto Sensi
- , Andrea Salmaggi
- , Mario Bengala
- , Francesca Mari
- , Gianluca Colussi
- , Krzysztof Szczaluba
- , Stylianos E Antonarakis
- , Marco Seri
- , Margherita Lerone
- & Roberto Ravazzolo
-
Research |
-
-
-
Research |
-
Research |
-
Research |
-
Research |
