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
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
- Creator: Choufani, Sanaa , McNiven, Vanda , Aul, Ritu B. , Castiglioni, Claudia , Breckpot, Jeroen , Devriendt, Koen , Stewart, Helen , Banos-Pinero, Benito , Mehta, Sarju , Sandford, Richard , Dunn, Carolyn , Mathevet, Remi , Cytrynbaum, Cheryl , Dudding-Byth, Tracy , Piard, J , Brischoux-Boucher, E , Vitobello, A , Faivre, L , Bournez, M , Tran-Mau, F , Maystadt, I , Fernandez-Jaen, A , Alvarez, S , Jangjoo, Maryam , Garcia-Prieto, ID , Alkuraya, FS , Alsaif, HS , Rahbeeni, Z , El-Akouri, K , Al-Mureikhi, M , Spillmann, RC , Shashi, V , Sanchez-Lara, PA , Graham, JM , Adam, Margaret P. , Roberts, A , Chorin, O , Evrony, GD , Kraatari-Tiri, M , Dudding-Byth, T , Richardson, A , Hunt, D , Hamilton, L , Dyack, S , Mendelsohn, BA , Bjornsson, Hans T. , Rodriguez, N , Sanchez-Martinez, R , Tenorio-Castano, J , Nevado, J , Lapunzina, P , Tirado, P , Rodrigues, M-TCA , Quteineh, L , Innes, AM , Kline, AD , Harris, Jacqueline , Au, PYB , Weksberg, R , Dyment, David A. , Graham, Gail E. , Nezarati, Marjan M.
- Resource Type: journal article
- Date: 2022