Refine your research by the most used items
Author / Editor
- Anjema, Karen (1)
- Antonarakis, Stylianos (1)
- Baban, Anwar (1)
- Bedeschi, Maria F. (1)
- Bengala, Mario (1)
- Billette de Villemeur, Thierry (1)
- Blau, Nenad (1)
- Bocciardi, Renata (1)
- Bosch, Annet M (1)
- Burlina, Alberto (1)

Document type
Full text accessibility
Full text version
Subject
Highlights
Show items per page
Title | Authors / Editors | Date | |
---|---|---|---|
![]() |
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents | Marini, Monica; Bocciardi, Renata; Gimelli, Stefania; Di Duca, Marco; ... Ravazzolo, Roberto | 2010 |
![]() |
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study | Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; ... Blau, Nenad | 2013 |