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27 April 2024 |
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Results 1 to 3 of 3 for query "Merlini, Luciano ". (0.02 sec.)
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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome | Beltrán-Valero de Bernabé, Daniel ; Currier, Sophie ; Steinbrecher, Alice ; Celli, Jacopo ; van Beusekom, Ellen ; van der Zwaag, Bert ; Kayserili, Hülya ; Merlini, Luciano ; Chitayat, David ; Dobyns, William B. ; Cormand, Bru ; Lehesjoki, Ana-Elina ; Cruces, Jesús ; Voit, Thomas ; Walsh, Christopher A. ; van Bokhoven, Hans ; Brunner, Han G. ; | |
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Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy | Demir, Ercan ; Sabatelli, Patrizia ; Allamand, Valérie ; Ferreiro, Ana ; Moghadaszadeh, Behzad ; Makrelouf, Mohamed ; Topaloglu, Haluk ; Echenne, Bernard ; Merlini, Luciano ; Guicheney, Pascale ; | |
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Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C | Novelli, Giuseppe ; Muchir, Antoine ; Sangiuolo, Federica ; Helbling-Leclerc, Anne ; D’Apice, Maria Rosaria ; Massart, Catherine ; Capon, Francesca ; Sbraccia, Paolo ; Federici, Massimo ; Lauro, Renato ; Tudisco, Cosimo ; Pallotta, Rosanna ; Scarano, Gioacchino ; Dallapiccola, Bruno ; Merlini, Luciano ; Bonne, Gisèle ; | |
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