Showing 1–6 of 6 results
-
Research |
-
Research |
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
- Marco Tartaglia
- , Len A Pennacchio
- , Chen Zhao
- , Kamlesh K Yadav
- , Valentina Fodale
- , Anna Sarkozy
- , Bhaswati Pandit
- , Kimihiko Oishi
- , Simone Martinelli
- , Wendy Schackwitz
- , Anna Ustaszewska
- , Joel Martin
- , James Bristow
- , Claudio Carta
- , Francesca Lepri
- , Cinzia Neri
- , Isabella Vasta
- , Kate Gibson
- , Cynthia J Curry
- , Juan Pedro López Siguero
- , Maria Cristina Digilio
- , Giuseppe Zampino
- , Bruno Dallapiccola
- , Dafna Bar-Sagi
- & Bruce D Gelb
-
Amendments and Corrections |
Correction: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
- Marco Tartaglia
- , Len A Pennacchio
- , Chen Zhao
- , Kamlesh K Yadav
- , Valentina Fodale
- , Anna Sarkozy
- , Bhaswati Pandit
- , Kimihiko Oishi
- , Simone Martinelli
- , Wendy Schackwitz
- , Anna Ustaszewska
- , Joel Martin
- , James Bristow
- , Claudio Carta
- , Francesca Lepri
- , Cinzia Neri
- , Isabella Vasta
- , Kate Gibson
- , Cynthia J Curry
- , Juan Pedro López Siguero
- , Maria Cristina Digilio
- , Giuseppe Zampino
- , Bruno Dallapiccola
- , Dafna Bar-Sagi
- & Bruce D Gelb
-
Research |
A restricted spectrum of NRAS mutations causes Noonan syndrome
- Ion C Cirstea
- , Kerstin Kutsche
- , Radovan Dvorsky
- , Lothar Gremer
- , Claudio Carta
- , Denise Horn
- , Amy E Roberts
- , Francesca Lepri
- , Torsten Merbitz-Zahradnik
- , Rainer König
- , Christian P Kratz
- , Francesca Pantaleoni
- , Maria L Dentici
- , Victoria A Joshi
- , Raju S Kucherlapati
- , Laura Mazzanti
- , Stefan Mundlos
- , Michael A Patton
- , Margherita Cirillo Silengo
- , Cesare Rossi
- , Giuseppe Zampino
- , Cristina Digilio
- , Liborio Stuppia
- , Eva Seemanova
- , Len A Pennacchio
- , Bruce D Gelb
- , Bruno Dallapiccola
- , Alfred Wittinghofer
- , Mohammad R Ahmadian
- , Marco Tartaglia
- & Martin Zenker
-
Research |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
- Bhaswati Pandit
- , Anna Sarkozy
- , Len A Pennacchio
- , Claudio Carta
- , Kimihiko Oishi
- , Simone Martinelli
- , Edgar A Pogna
- , Wendy Schackwitz
- , Anna Ustaszewska
- , Andrew Landstrom
- , J Martijn Bos
- , Steve R Ommen
- , Giorgia Esposito
- , Francesca Lepri
- , Christian Faul
- , Peter Mundel
- , Juan P López Siguero
- , Romano Tenconi
- , Angelo Selicorni
- , Cesare Rossi
- , Laura Mazzanti
- , Isabella Torrente
- , Bruno Marino
- , Maria C Digilio
- , Giuseppe Zampino
- , Michael J Ackerman
- , Bruno Dallapiccola
- , Marco Tartaglia
- & Bruce D Gelb
-
Research | | Open
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
- Sabina Gainotti
- , Paola Torreri
- , Chiuhui Mary Wang
- , Robert Reihs
- , Heimo Mueller
- , Emma Heslop
- , Marco Roos
- , Dorota Mazena Badowska
- , Federico de Paulis
- , Yllka Kodra
- , Claudio Carta
- , Estrella Lopez Martìn
- , Vanessa Rangel Miller
- , Mirella Filocamo
- , Marina Mora
- , Mark Thompson
- , Yaffa Rubinstein
- , Manuel Posada de la Paz
- , Lucia Monaco
- , Hanns Lochmüller
- & Domenica Taruscio
