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Showing 1–5 of 5 results
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Research |
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
- Julia Brinkmann
- , Christina Lissewski
- , Valentina Pinna
- , Yoann Vial
- , Francesca Pantaleoni
- , Francesca Lepri
- , Paola Daniele
- , Birute Burnyte
- , Goran Cuturilo
- , Christine Fauth
- , Alper Gezdirici
- , Dieter Kotzot
- , Elif Yılmaz Güleç
- , Violeta Iotova
- , Denny Schanze
- , Francis Ramond
- , Markéta Havlovicová
- , Gulen Eda Utine
- , Pelin Ozlem Simsek-Kiper
- , Milena Stoyanova
- , Alain Verloes
- , Alessandro De Luca
- , Marco Tartaglia
- , Hélène Cavé
- & Martin Zenker
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Research |
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
- Christina Lissewski
- , Valérie Chune
- , Francesca Pantaleoni
- , Alessandro De Luca
- , Yline Capri
- , Julia Brinkmann
- , Francesca Lepri
- , Paola Daniele
- , Erika Leenders
- , Laura Mazzanti
- , Emanuela Scarano
- , Francesca Clementina Radio
- , Kerstin Kutsche
- , Alma Kuechler
- , Marion Gérard
- , Kara Ranguin
- , Marine Legendre
- , Yoann Vial
- , Ineke van der Burgt
- , Tuula Rinne
- , Elena Andreucci
- , Gioia Mastromoro
- , Maria Cristina Digilio
- , Hélène Cave
- , Marco Tartaglia
- & Martin Zenker
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Research |
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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
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Research |
Genotype and phenotype spectrum of NRAS germline variants
- Franziska Altmüller
- , Christina Lissewski
- , Debora Bertola
- , Elisabetta Flex
- , Zornitza Stark
- , Stephanie Spranger
- , Gareth Baynam
- , Michelle Buscarilli
- , Sarah Dyack
- , Jane Gillis
- , Helger G Yntema
- , Francesca Pantaleoni
- , Rosa LE van Loon
- , Sara MacKay
- , Kym Mina
- , Ina Schanze
- , Tiong Yang Tan
- , Maie Walsh
- , Susan M White
- , Marena R Niewisch
- , Sixto García-Miñaúr
- , Diego Plaza
- , Mohammad Reza Ahmadian
- , Hélène Cavé
- , Marco Tartaglia
- & Martin Zenker
