Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Dingemans, Alexander J.M."'
Autor:
Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625
Autor:
Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Autor:
van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E.L.M., Dingemans, Alexander J.M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Publikováno v:
In Genetics in Medicine March 2024 26(3)
Autor:
van der Sluijs, Pleuntje J., Moutton, Sébastien, Dingemans, Alexander J.M., Weis, Denisa, Levy, Michael A., Boycott, Kym M., Arberas, Claudia, Baldassarri, Margherita, Beneteau, Claire, Brusco, Alfredo, Coutton, Charles, Dabir, Tabib, Dentici, Maria L., Devriendt, Koenraad, Faivre, Laurence, van Haelst, Mieke M., Jizi, Khadije, Kempers, Marlies J., Kerkhof, Jennifer, Kharbanda, Mira, Lachlan, Katherine, Marle, Nathalie, McConkey, Haley, Mencarelli, Maria A., Mowat, David., Niceta, Marcello, Nicolas, Claire, Novelli, Antonio, Orlando, Valeria, Pichon, Olivier, Rankin, Julia, Relator, Raissa., Ropers, Fabienne G., Rosenfeld, Jill A., Sachdev, Rani, Sandaradura, Sarah A., Shukarova-Angelovska, Elena, Steenbeek, Duco, Tartaglia, Marco, Tedder, Matthew A., Trajkova, Slavica, Winer, Norbert, Woods, Jeremy, de Vries, Bert B.A., Sadikovic, Bekim, Alders, Marielle, Santen, Gijs W.E.
Publikováno v:
In Genetics in Medicine September 2024
Autor:
Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin S., Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin
Publikováno v:
In Genetics in Medicine July 2023
Autor:
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Publikováno v:
In Genetics in Medicine November 2023 25(11)
Autor:
de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Publikováno v:
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, ' Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein ', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064 . https://doi.org/10.1016/j.gim.2022.06.007
Genetics in Medicine, 24, 2051-2064
Genetics in Medicine, 24(10), 2051-2064. Nature Publishing Group
Genetics in Medicine, 24(10), 2051-2064. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩
Genetics in Medicine, 24, 10, pp. 2051-2064
Scientia
Genetics in Medicine, 24(10), 2051-2064. ELSEVIER SCIENCE INC
Genetics in Medicine, 24, 2051-2064
Genetics in Medicine, 24(10), 2051-2064. Nature Publishing Group
Genetics in Medicine, 24(10), 2051-2064. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩
Genetics in Medicine, 24, 10, pp. 2051-2064
Scientia
Genetics in Medicine, 24(10), 2051-2064. ELSEVIER SCIENCE INC
KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244a1f99ac7803d8c7cddcccfffebcec
https://hdl.handle.net/1887/3561457
https://hdl.handle.net/1887/3561457
Autor:
Dingemans, Alexander J.M., Hinne, Max, Jansen, Sandra, van Reeuwijk, Jeroen, de Leeuw, Nicole, Pfundt, Rolph, van Bon, Bregje W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., van Gerven, Marcel A.J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 24(3), 645-653. Lippincott Williams and Wilkins
Genetics in Medicine, 24, 3, pp. 645-653
Genetics in Medicine, 24, 645-653
Dingemans, A J M, Hinne, M, Jansen, S, van Reeuwijk, J, de Leeuw, N, Pfundt, R, van Bon, B W, Vulto-van Silfhout, A T, Kleefstra, T, Koolen, D A, van Gerven, M A J, Vissers, L E L M & de Vries, B B A 2022, ' Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders ', Genetics in Medicine, vol. 24, no. 3, pp. 645-653 . https://doi.org/10.1016/j.gim.2021.10.019
Genetics in Medicine, 24(3), 645-653. Lippincott Williams and Wilkins
Genetics in Medicine, 24, 3, pp. 645-653
Genetics in Medicine, 24, 645-653
Dingemans, A J M, Hinne, M, Jansen, S, van Reeuwijk, J, de Leeuw, N, Pfundt, R, van Bon, B W, Vulto-van Silfhout, A T, Kleefstra, T, Koolen, D A, van Gerven, M A J, Vissers, L E L M & de Vries, B B A 2022, ' Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders ', Genetics in Medicine, vol. 24, no. 3, pp. 645-653 . https://doi.org/10.1016/j.gim.2021.10.019
Item does not contain fulltext Purpose: Although the introduction of exome sequencing (ES) has led to the diagnosis of a significant portion of patients with neurodevelopmental disorders (NDDs), the diagnostic yield in actual clinical practice has re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d3118864da6b1ee15c5c9f39558a53
https://pubmed.ncbi.nlm.nih.gov/34906484
https://pubmed.ncbi.nlm.nih.gov/34906484
Autor:
Coenen-van der Spek, Jet, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael A., Tedder, Matthew L., Louie, Raymond J., Fletcher, Robin S., Moore, Hannah W., Childers, Anna, Farrelly, Ellyn R., Champaigne, Neena L., Lyons, Michael J., Everman, David B., Rogers, R. Curtis, Skinner, Steven A., Renck, Alicia, Matalon, Dena R., Dills, Shelley K., Monteleone, Berrin, Demirdas, Serwet, Dingemans, Alexander J.M., Donker Kaat, Laura, Kolk, Sharon M., Pfundt, Rolph, Rump, Patrick, Sadikovic, Bekim, Kleefstra, Tjitske, Butler, Kameryn M.
Publikováno v:
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p63-75, 13p
Autor:
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Publikováno v:
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2051-2064, 14p