Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
- Creator: Peluso, Francesca , Caraffi, Stefano G. , Bisgaard, Anne-Marie , Ivanovski, Ivan , Maitz, Silvia , Brischoux-Boucher, Elise , Carter, Melissa T. , Dentici, Maria Lisa , Devriendt, Koenraad , Bellini, Melissa , Digilio, Maria Cristina , Doja, Asif , Contrò, Gianluca , Dyment, David A. , Farholt, Stense , Ferreira, Carlos R. , Wolfe, Lynne A. , Gahl, William A. , Gnazzo, Maria , Goel, Himanshu , Gronborg, Sabine Weller , Hammer, Trine , Iughetti, Lorenzo , Valeri, Lara , Kleefstra, Tjitske , Koolen, David A. , Lepri, Francesca Romana , Lemire, Gabrielle , Louro, Pedro , McCullagh, Gary , Madeo, Simona F. , Milone, Annarita , Milone, Roberta , Nielsen, Jens Erik Klint , Napoli, Manuela , Novelli, Antonio , Ockeloen, Charlotte W. , Pascarella, Rosario , Pippucci, Tommaso , Ricca, Ivana , Robertson, Stephen P. , Sawyer, Sarah , Falkenberg Smeland, Marie , Stegmann, Sander , Stumpel, Constanze T. , Carboni, Giorgia , Goel, Amy , Taylor, Juliet M. , Barbuti, Domenico , Soresina, Annarosa , Bedeschi, Maria Francesca , Battini, Roberta , Cavalli, Anna , Fusco, Carlo , Iascone, Maria , Van Maldergem, Lionel , Seth, Alka , Venkateswaran, Sunita , Zuffardi, Orsetta , Vergano, Samantha , Garavelli, Livia , Bayat, Allan , Zuntini, Roberta , Coccia, Emanuele , Astrea, Guja
- Resource Type: journal article
- Date: 2023
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
- Creator: Huang, Lijia , Chardon, Jodi Warman , Boycott, Kym M , Carter, Melissa T. , Friend, Kathie L , Dudding, Tracy E. , Schwartzentruber, Jeremy , Zou, Roubing , Schofield, Peter W. , Douglas, Stuart , Bulman, Dennis E
- Resource Type: journal article
- Date: 2012