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
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Creator: Jansen, Sandra , Hoischen, Alexander , Van Bon, Bregje W. , Claahsen-Van Der Grinten, Hedi L. , Gecz, Jozef , Gilissen, Christian , Grillo, Lucia , Hackett, Anna , Kleefstra, Tjitske , Koolen, David , Kvarnung, Malin , Larsen, Martin J. , Coe, Bradley P. , Marcelis, Carlo , McKenzie, Fiona , Monin, Marie-Lorraine , Nava, Caroline , Schuurs-Hoeijmakers, Janneke H. , Pfundt, Rolph , Steehouwer, Marlos , Stevens, Servi J.C. , Stumpel, Connie T. , Vansenne, Fleur , Carvill, Gemma L. , Vinci, Mirella , Van De Vorst, Maartje , Vries, Petra D. , Witherspoon, Kali , Veltman, Joris A. , Brunner, Han G. , Mefford, Heather C. , Romano, Corrado , Vissers, Lisenka E.L.M. , Eichler, Evan E. , Van Esch, Hilde , De Vries, Bert B.A. , Bosch, Danielle G.M. , Andersen, Ulla A. , Baker, Carl , Bauters, Marijke , Bernier, Raphael A.
- Resource Type: journal article
- Date: 2018
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
- Creator: Dudding-Byth, Tracy , Baxter, Anne , Kleefstra, Tjitske , Ratwatte, Seshika , Riveros, Carlos , Brain, Steve , Lovell, Brian C. , Holliday, Elizabeth G. , Hackett, Anna , O'Donnell, Sheridan , White, Susan M. , Attia, John , Brunner, Han , de Vries, Bert , Koolen, David
- Resource Type: journal article
- Date: 2017