Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-Related Neurodevelopmental Condition
- Creator: Palmer, Elizabeth E. , Pusch, Michael , Nizon, Mathilde , Cogné, Benjamin , Beneteau, Claire , Alkuraya, Fowzan S. , Chedrawi, Aziza , Hashem, Mais O. , Stamberger, Hannah , Weckhuysen, Sarah , Vanlander, Arnaud , Ceulemans, Berten , Picollo, Alessandra , Rajagopalan, Sulekha , Nunn, K , Arpin, S , Raynaud, M , Motter, CS , Ward-Melver, C , Janssens, K , Meuwissen, M , Beysen, D , Dikow, N , Forwood, Caitlin , Grimmel, M , Haack, TB , Clement, E , McTague, A , Hunt, D , Townshend, S , Ward, M , Richards, LJ , Simons, C , Costain, G , Nguyen, Matthew H. , Dupuis, L , Mendoza-Londono, R , Dudding-Byth, Tracy , Boyle, J , Saunders, C , Fleming, E , El Chehadeh, S , Spitz, MA , Piton, A , Gerard, B , Suckow, Vanessa , Abi Warde, MT , Rea, G , McKenna, C , Douzgou, S , Banka, S , Akman, C , Bain, JM , Sands, TT , Wilson, GN , Silvertooth, EJ , Gibbons, Jessica , Miller, L , Lederer, D , Sachdev, R , Macintosh, R , Monestier, O , Karadurmus, D , Collins, F , Carter, M , Rohena, L , Willemsen, MH , Hoff, Alva , Ockeloen, CW , Pfundt, R , Kroft, SD , Field, M , Laranjeira, FER , Fortuna, AM , Soares, AR , Michaud, V , Naudion, S , Golla, S , Sigfrid, Lisa , Weaver, DD , Bird, LM , Friedman, J , Clowes, V , Joss, S , Pölsler, L , Campeau, PM , Blazo, M , Bijlsma, EK , Rosenfeld, JA , Megarbane, Andre , Beetz, C , Powis, Z , McWalter, K , Brandt, T , Torti, E , Mathot, M , Mohammad, SS , Armstrong, R , Kalscheuer, VM
- Resource Type: journal article
- Date: 2023
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