The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Autor: Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., van Binsbergen, Ellen, Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Andersen, Charlotte Brasch, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wagner, Matias, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Simões, Maria José, Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Vitobello, Antonio, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Davis-Keppen, Laura, Platt, Dylan, Royer, Erin, Leeuwen, Lisette, Sinnema, Margje, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tiller, George E., Bosch, Daniëlle G.M., Potgieter, Stephanus T., Joss, Shelagh, Splitt, Miranda, Holden, Simon, Prapa, Matina, Foulds, Nicola, Douzgou, Sofia, Puura, Kaija, Waltes, Regina, Chiocchetti, Andreas G., Freitag, Christine M., Satterstrom, F. Kyle, De Rubeis, Silvia, Buxbaum, Joseph, Gelb, Bruce D., Branko, Aleksic, Kushima, Itaru, Howe, Jennifer, Scherer, Stephen W., Arado, Alessia, Baldo, Chiara, Patat, Olivier, Bénédicte, Demeer, Lopergolo, Diego, Santorelli, Filippo M., Haack, Tobias B., Dufke, Andreas, Bertrand, Miriam, Falb, Ruth J., Rieß, Angelika, Krieg, Peter, Spranger, Stephanie, Bedeschi, Maria Francesca, Iascone, Maria, Josephi-Taylor, Sarah, Roscioli, Tony, Buckley, Michael F., Liebelt, Jan, Dagli, Aditi I., Aten, Emmelien, Hurst, Anna C.E., Hicks, Alesha, Suri, Mohnish, Aliu, Ermal, Naik, Sunil, Sidlow, Richard, Coursimault, Juliette, Nicolas, Gaël, Küpper, Hanna, Petit, Florence, Ibrahim, Veyan, Top, Deniz, Di Cara, Francesca, Louie, Raymond J., Stolerman, Elliot, Brunner, Han G., Vissers, Lisenka E.L.M., Kramer, Jamie M., Kleefstra, Tjitske

Publikováno v: In The American Journal of Human Genetics 1 June 2023 110(6):963-978

Proposal to extend the PROMIS ® item bank v2.0 ‘Ability to Participate in Social Roles and Activities’ : item generation and content validity

Autor: van Leeuwen, Lisette M., Tamminga, Sietske J., Ravinskaya, Margarita, de Wind, Astrid, Hahn, Elisabeth A., Terwee, Caroline B., Beckerman, Heleen, Boezeman, Edwin J., Hoving, Jan L., Huysmans, Maaike A., Nieuwenhuijsen, Karen, de Boer, Angela G. E. M., van der Beek, Allard J.

Publikováno v: Quality of Life Research, 2020 Oct 01. 29(10), 2851-2861.

Externí odkaz: https://www.jstor.org/stable/48734035

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The development of a Self-Rated ICF-based questionnaire (HEAR-COMMAND Tool) to evaluate Hearing, Communication, and Conversation disability: Multinational experts’ and patients’ perspectives

Autor: Afghah, Tahereh, Alfakir, Razan, Meis, Markus, van Leeuwen, Lisette, Kramer, Sophia E., Hammady, Mahmoud, Youssif, Mostafa, Wagener, Kirsten C.

Publikováno v: Frontiers in Rehabilation Sciences, 3, Volume 3-2022
Afghah, T, Alfakir, R, Meis, M, van Leeuwen, LM, Kramer, SE, Hammady, M, Youssif, M & Wagener, K C 2022, ' The development of a Self-Rated ICF-based questionnaire (HEAR-COMMAND Tool) to evaluate Hearing, Communication, and Conversation disability: Multinational experts' and patients' perspectives ', Frontiers in Rehabilation Sciences, vol. 3, pp. Volume 3-2022 . https://doi.org/DOI 10.3389/fresc.2022.1005525

ObjectiveAn instrument that facilitates the advancement of hearing healthcare delivery from a biomedical model to a biopsychosocial one that underpins the International Classification of Functioning, Disability, and Health framework (ICF) brief and c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::654beb4a1d6277a0dda7ad6ee7ccd484

Liver Disease in Cystic Fibrosis

Autor: Leeuwen, Lisette, Fitzgerald, Dominic A., Gaskin, Kevin J.

Publikováno v: In Paediatric Respiratory Reviews March 2014 15(1):69-74