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Showing 1–4 of 4 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 |
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
- Valentina Pinna
- , Valentina Lanari
- , Paola Daniele
- , Federica Consoli
- , Emanuele Agolini
- , Katia Margiotti
- , Irene Bottillo
- , Isabella Torrente
- , Alessandro Bruselles
- , Caterina Fusilli
- , Anna Ficcadenti
- , Sara Bargiacchi
- , Eva Trevisson
- , Monica Forzan
- , Sandra Giustini
- , Chiara Leoni
- , Giuseppe Zampino
- , Maria Cristina Digilio
- , Bruno Dallapiccola
- , Maurizio Clementi
- , Marco Tartaglia
- & Alessandro De Luca
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Research | | Open
Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats
- Cristina Zalfa
- , Laura Rota Nodari
- , Elena Vacchi
- , Maurizio Gelati
- , Daniela Profico
- , Marina Boido
- , Elena Binda
- , Lidia De Filippis
- , Massimiliano Copetti
- , Valentina Garlatti
- , Paola Daniele
- , Jessica Rosati
- , Alessandro De Luca
- , Francesca Pinos
- , Laura Cajola
- , Alberto Visioli
- , Letizia Mazzini
- , Alessandro Vercelli
- , Maria Svelto
- , Angelo Luigi Vescovi
- & Daniela Ferrari
