The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
- Creator: Furia, Francesca , Levy, Amanda M. , Dean, Sarah Joy , Egense, Alena , Goel, Himanshu , Guenzel, Adam J. , Hüffmeier, Ulrike , Legius, Eric , Mancini, Grazia M. S. , Marcos-Alcalde, Iñigo , Niclass, Tanguy , Planes, Marc , Theunis, Miel , Redon, Sylvia , Ros-Pardo, D , Rouault, K , Schot, R , Schuhmann, S , Shen, JJ , Tao, AM , Thiffault, I , Van Esch, H , Wentzensen, IM , Bamshad, Michael J. , Barakat, TS , Møller, RS , Gomez-Puertas, P , Chung, WK , Gardella, E , Tümer, Z , Bartos, Meghan N. , Bijlsma, Emilia K. , Brancati, Francesco , Cejudo, Lucile , Chong, Jessica X. , De Luca, Chiara
- Resource Type: journal article
- Date: 2024
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Creator: van der Sluijs, Pleuntje J. , Jansen, Sandra , Bijlsma, Emilia K. , Eichler, E , Pfundt, R , de Vries, BBA , Clayton-Smith, J , Santen, GWE , Bok, Levinus A. , Brouwer, Alwin F. J. , van der Burgt, Ineke , Campeau, Philippe M. , Canham, Natalie , Chrzanowska, Krystyna , Chu, Yoyo W. Y. , Chung, Brain H. Y. , Dahan, Karin , Vergano, Samantha A. , De Rademaeker, Marjan , Destree, A , Dudding-Byth, Tracy , Earl, R , Elcioglu, N , Elias, ER , Fagerberg, C , Gardham, A , Gener, B , Gerkes, EH , Adachi-Fukuda, Miho , Grasshoff, U , van Haeringen, A , Heitink, KR , Herkert, JC , den Hollander, NS , Horn, D , Hunt, D , Kant, SG , Kato, M , Kayserili, H , Alanay, Yasemin , Kersseboom, R , Kilic, E , Krajewska-Walasek, M , Lammers, K , Laulund, LW , Lederer, D , Lees, M , Lopez-Gonzalez, V , Maas, S , Mancini, GMS , AlKindy, Adila , Marcelis, C , Martinez, F , Maystadt, I , McGuire, M , McKee, S , Mehta, S , Metcalfe, K , Milunsky, J , Mizuno, S , Moeschler, JB , Baban, Anwar , Netzer, C , Ockeloen, CW , Oehl-Jaschkowitz, B , Okamoto, N , Olminkhof, SNM , Orellana, C , Pasquier, L , Pottinger, C , Riehmer, V , Robertson, SP , Bayat, Allan , Roifman, M , Rooryck, C , Ropers, FG , Rosello, M , Ruivenkamp, CAL , Sagiroglu, MS , Sallevelt, SCEH , Sanchis Calvo, A , Simsek-Kiper, PO , Soares, G , Beck-Woedl, Stefanie , Solaeche, L , Sonmez, FM , Splitt, M , Steenbeek, D , Stegmann, APA , Stumpel, CTRM , Tanabe, S , Uctepe, E , Utine, GE , Veenstra-Knol, HE , Berry, Katherine , Venkateswaran, S , Vilain, C , Vincent-Delorme, C , Vulto-van Silfhout, AT , Wheeler, P , Wilson, GN , Wilson, LC , Wollnik, B , Kosho, T , Wieczorek, D
- Resource Type: journal article
- Date: 2019