Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA von Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M H F, Lugtenberg, Dorien, Klaren, Peter H M, Vissers, Lisenka E L M, Roepman, Ronald, Oud, Machteld M

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability von Lelieveld, Stefan H, Reijnders, Margot R F, Pfundt, Rolph, Yntema, Helger G, Kamsteeg, Erik-Jan, de Vries, Petra, de Vries, Bert B A, Willemsen, Marjolein H, Kleefstra, Tjitske, Löhner, Katharina, Vreeburg, Maaike, Stevens, Servi J C, van der Burgt, Ineke, Bongers, Ernie M H F, Stegmann, Alexander P A, Rump, Patrick, Rinne, Tuula, Nelen, Marcel R, Veltman, Joris A, Vissers, Lisenka E L M, Brunner, Han G, Gilissen, Christian

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Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome von Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G, Bongers, Ernie M H F, O'Driscoll, Mark, Jeggo, Penny A

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome von Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

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Kinetics of Neutrophil Subsets in Acute, Subacute, and Chronic Inflammation von Bongers, Suzanne H., Chen, Na, van Grinsven, Erinke, van Staveren, Selma, Hassani, Marwan, Spijkerman, Roy, Hesselink, Lilian, Lo Tam Loi, Adèle T., van Aalst, Corneli, Leijte, Guus P., Kox, Matthijs, Pickkers, Peter, Hietbrink, Falco, Leenen, Luke P. H., Koenderman, Leo, Vrisekoop, Nienke

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome von Bicknell, Louise S, Bongers, Ernie M H F, Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E, Aftimos, Salim, Al-Aama, Jumana Y, Bober, Michael, Brown, Paul A J, van Bokhoven, Hans, Dean, John, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H, Kau, Nikolaus, Knoers, Nine V A M, MacKenzie, James, Opitz, John M, Sarda, Pierre, Ross, Alison, Temple, I Karen, Toutain, Annick, Wise, Carol A, Wright, Michael, Jackson, Andrew P

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Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) von Renkema, Kirsten Y., Winyard, Paul J., Skovorodkin, Ilya N., Levtchenko, Elena, Hindryckx, An, Jeanpierre, Cécile, Weber, Stefanie, Salomon, Rémi, Antignac, Corinne, Vainio, Seppo, Schedl, Andreas, Schaefer, Franz, Knoers, Nine V.A.M., Bongers, Ernie M.H.F.

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Robot-assisted task-oriented upper extremity skill training in cervical spinal cord injury: a feasibility study von Vanmulken, D A M M, Spooren, A I F, Bongers, H M H, Seelen, H A M

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance von Schulz, Yvonne, Wehner, Peter, Opitz, Lennart, Salinas-Riester, Gabriela, Bongers, Ernie M. H. F., van Ravenswaaij-Arts, Conny M. A., Wincent, Josephine, Schoumans, Jacqueline, Kohlhase, Jürgen, Borchers, Annette, Pauli, Silke

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TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension von Kerstjens-Frederikse, Wilhelmina S, Bongers, Ernie M H F, Roofthooft, Marcus T R, Leter, Edward M, Douwes, J Menno, Van Dijk, Arie, Vonk-Noordegraaf, Anton, Dijk-Bos, Krista K, Hoefsloot, Lies H, Hoendermis, Elke S, Gille, Johan J P, Sikkema-Raddatz, Birgit, Hofstra, Robert M W, Berger, Rolf M F

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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome von Koolen, David A, Kramer, Jamie M, Neveling, Kornelia, Nillesen, Willy M, Moore-Barton, Heather L, Elmslie, Frances V, Toutain, Annick, Amiel, Jeanne, Malan, Valérie, Tsai, Anne Chun-Hui, Cheung, Sau Wai, Gilissen, Christian, Verwiel, Eugene T P, Martens, Sarah, Feuth, Ton, Bongers, Ernie M H F, de Vries, Petra, Scheffer, Hans, Vissers, Lisenka E L M, de Brouwer, Arjan P M, Brunner, Han G, Veltman, Joris A, Schenck, Annette, Yntema, Helger G, de Vries, Bert B A

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Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct... von Pietilä, Ilkka, Prunskaite-Hyyryläinen, Renata, Kaisto, Susanna, Tika, Elisavet, van Eerde, Albertien M, Salo, Antti M, Garma, Leonardo, Miinalainen, Ilkka, Feitz, Wout F, Bongers, Ernie M H F, Juffer, André, Knoers, Nine V A M, Renkema, Kirsten Y, Myllyharju, Johanna, Vainio, Seppo J

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Opportunities for Regulatory Authorities to Assess Animal-Based Measures at the Slaughterhouse Using Sensor Technology and Artificial Intelligence: A Review von Voogt, Annika M., Schrijver, Remco S., Temürhan, Mine, Bongers, Johan H., Sijm, Dick T. H. M.

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Fatigue in persons with subacute spinal cord injury who are dependent on a manual wheelchair von Nooijen, C F J, Vogels, S, Bongers-Janssen, H M H, Bergen, M P, Stam, H J, van den Berg-Emons, H J G

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Early Development of Hyperparathyroidism Due to Loss of PTH Transcriptional Repression in Patients With HNF1β Mutations? von Ferrè, Silvia, Bongers, Ernie M. H. F, Sonneveld, Ramon, Cornelissen, Elisabeth A. M, van der Vlag, Johan, van Boekel, Gerben A. J, Wetzels, Jack F. M, Hoenderop, Joost G. J, Bindels, René J. M, Nijenhuis, Tom

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Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis von Oud, Machteld M, Latour, Brooke L, Bakey, Zeineb, Letteboer, Stef J, Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A M, Yntema, Helger G, Schmidts, Miriam, Roepman, Ronald, Bongers, Ernie M H F

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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency von Knapp, Karen M, Jenkins, Danielle E, Sullivan, Rosie, Harms, Frederike L, von Elsner, Leonie, Ockeloen, Charlotte W, de Munnik, Sonja, Bongers, Ernie M H F, Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S

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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome von Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.

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Evaluation of a task-oriented client-centered upper extremity skilled performance training module in persons with tetraplegia von Spooren, A I F, Janssen-Potten, Y J M, Kerckhofs, E, Bongers, H M H, Seelen, H A M

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Associations between disability-management self-efficacy, participation and life satisfaction in people with long-standing spinal cord injury von Cijsouw, A, Adriaansen, J J E, Tepper, M, Dijksta, C A, van Linden, S, de Groot, S, Post, M W M

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