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Showing 1–4 of 4 results
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Research |
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Research |
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
- Thomas E Neumann
- , Judith Allanson
- , Ines Kavamura
- , Bronwyn Kerr
- , Giovanni Neri
- , Jacqueline Noonan
- , Viviana Cordeddu
- , Kate Gibson
- , Andreas Tzschach
- , Gabriele Krüger
- , Maria Hoeltzenbein
- , Timm O Goecke
- , Hans Gerd Kehl
- , Beate Albrecht
- , Klaudiusz Luczak
- , Maria M Sasiadek
- , Luciana Musante
- , Rohan Laurie
- , Hartmut Peters
- , Marco Tartaglia
- , Martin Zenker
- & Vera Kalscheuer
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Research |
Mutations in ZBTB20 cause Primrose syndrome
- Viviana Cordeddu
- , Bert Redeker
- , Emilia Stellacci
- , Aldo Jongejan
- , Alessandra Fragale
- , Ted E J Bradley
- , Massimiliano Anselmi
- , Andrea Ciolfi
- , Serena Cecchetti
- , Valentina Muto
- , Laura Bernardini
- , Meron Azage
- , Daniel R Carvalho
- , Alberto J Espay
- , Alison Male
- , Anna-Maja Molin
- , Renata Posmyk
- , Carla Battisti
- , Alberto Casertano
- , Daniela Melis
- , Antoine van Kampen
- , Frank Baas
- , Marcel M Mannens
- , Gianfranco Bocchinfuso
- , Lorenzo Stella
- , Marco Tartaglia
- & Raoul C Hennekam
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Research |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
- Viviana Cordeddu
- , Elia Di Schiavi
- , Len A Pennacchio
- , Avi Ma'ayan
- , Anna Sarkozy
- , Valentina Fodale
- , Serena Cecchetti
- , Alessio Cardinale
- , Joel Martin
- , Wendy Schackwitz
- , Anna Lipzen
- , Giuseppe Zampino
- , Laura Mazzanti
- , Maria C Digilio
- , Simone Martinelli
- , Elisabetta Flex
- , Francesca Lepri
- , Deborah Bartholdi
- , Kerstin Kutsche
- , Giovanni B Ferrero
- , Cecilia Anichini
- , Angelo Selicorni
- , Cesare Rossi
- , Romano Tenconi
- , Martin Zenker
- , Daniela Merlo
- , Bruno Dallapiccola
- , Ravi Iyengar
- , Paolo Bazzicalupo
- , Bruce D Gelb
- & Marco Tartaglia
