Mirror Hand Movements Caused by a Deletion of the DCC Gene

Kleinendorst, L. & van Haelst, M. M., 12 Feb 2024, In: JAMA Neurology. 81, 2, p. 187 1 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Schmetz, A., Lüdecke, H-J., Surowy, H., Sivalingam, S., Bruel, A-L., Caumes, R., Charles, P., Chatron, N., Chrzanowska, K., Codina-Solà, M., Colson, C., Cuscó, I., Denommé-Pichon, A-S., Edery, P., Faivre, L., Green, A., Heide, S., Hsieh, T-C., Hustinx, A., Kleinendorst, L., & 30 othersKnopp, C., Kraft, F., Krawitz, P. M., Lasa-Aranzasti, A., Lesca, G., López-González, V., Maraval, J., Mignot, C., Neuhann, T., Netzer, C., Oehl-Jaschkowitz, B., Petit, F., Philippe, C., Posmyk, R., Putoux, A., Reis, A., Sánchez-Soler, M. J., Suh, J., Tkemaladze, T., Tran Mau Them, F., Travessa, A., Trujillano, L., Valenzuela, I., van Haelst, M. M., Vasileiou, G., Vincent-Delorme, C., Walther, M., Verde, P., Bramswig, N. C. & Wieczorek, D., 2023, (E-pub ahead of print) In: Human genetics.

Research output: Contribution to journal › Article › Academic › peer-review

Developmental epileptic encephalopathy in DLG4-related synaptopathy

Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., de Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D., & 44 othersGreiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., 2023, (E-pub ahead of print) In: Epilepsia.

Research output: Contribution to journal › Article › Academic › peer-review

Developmental epileptic encephalopathy in DLG4-related synaptopathy

Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D., & 44 othersGreiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. V., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., 22 Dec 2023, (E-pub ahead of print) In: Epilepsia.

Research output: Contribution to journal › Article › Academic › peer-review

Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population

Abawi, O., Wahab, R. J., Kleinendorst, L., Blankers, L. A., Brandsma, A. E., van Rossum, E. F. C., van der Voorn, B., van Haelst, M. M., Gaillard, R. & van den Akker, E. L. T., 1 Nov 2023, In: Journal of pediatrics. 262, 113619.

Research output: Contribution to journal › Article › Academic › peer-review