Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- Creator: Goel, Himanshu , O'Donnell, Sheridan , Roscioli, Tony , Hart, Francesca
- Resource Type: journal article
- Date: 2024
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
Medical education: Accommodating students with ADHD
- Creator: Bailey, Annabel , Grotowski, Miriam , Bailey, Susan
- Resource Type: journal article
- Date: 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
- Creator: Rossi, Alessandra , Blok, Lot Snijders , Alfieri, Paolo , Srivastava, Siddharth , Coulter, David , Smith, Lacey , Vinorum, Kristin , Cappuccio, Gerarda , Brunetti-Pierri, Nicola , Torun, Deniz , Arslan, Mutluay , Lauridsen, Mathilde F. , Neuser, Sonja , Murch, Oliver , Irving, R , Lynch, SA , Mehta, SG , Carmichael, J , Zonneveld-Huijssoon, E , de Vries, B , Kleefstra, T , Johannesen, KM , Westphall, IT , Klöckner, Chiara , Hughes, SS , Smithson, S , Evans, J , Dudding-Byth, Tracy , Simon, M , van Binsbergen, E , Herkert, JC , Beunders, G , Oppermann, H , Bakal, M , Platzer, Konrad , Møller, RS , Rubboli, G , Bayat, A , Faivre, Laurence Olivier , Weigand, Heike , Dentici, Maria L. , Tartaglia, Marco , Niceta, Marcello
- Resource Type: journal article
- Date: 2023
Schoolchildren with unilateral or mild to moderate bilateral sensorineural hearing loss should be screened for neurodevelopmental problems
- Creator: Stübner, Charlotte , Flynn, Traci , Gillberg, Christopher , Fernell, Elisabeth , Miniscalco, Carmela
- Resource Type: journal article
- Date: 2020