檢索結果 - van'T Slot, Ruben

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex 由 Poot, Martin, Eleveld, Marc J, van 't Slot, Ruben, Ploos van Amstel, Hans Kristian, Hochstenbach, Ron

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Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions 由 Engbers, Hannelie, van der Smagt, Jasper J, van ‘t Slot, Ruben, Vermeesch, Joris R, Hochstenbach, Ron, Poot, Martin

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The SPINK gene family and celiac disease susceptibility 由 Wapenaar, Martin C., Monsuur, Alienke J., Poell, Jos, van ‘t Slot, Ruben, Meijer, Jos W. R., Meijer, Gerrit A., Mulder, Chris J., Mearin, Maria Luisa, Wijmenga, Cisca

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NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome 由 Weuring, Wout J., Singh, Sakshi, Volkers, Linda, Rook, Martin B., van ‘t Slot, Ruben H., Bosma, Marjolein, Inserra, Marco, Vetter, Irina, Verhoeven-Duif, Nanda M., Braun, Kees P. J., Rivara, Mirko, Koeleman, Bobby P. C.

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Modifier genes in SCN1A‐related epilepsy syndromes 由 de Lange, Iris M., Mulder, Flip, van 't Slot, Ruben, Sonsma, Anja C. M., van Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.

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Genome-Wide Association Scan in HIV-1-Infected Individuals Identifying Variants Influencing Disease Course 由 van Manen, Daniëlle, Delaneau, Olivier, Kootstra, Neeltje A., Boeser-Nunnink, Brigitte D., Limou, Sophie, Bol, Sebastiaan M., Burger, Judith A., Zwinderman, Aeilko H., Moerland, Perry D., van 't Slot, Ruben, Zagury, Jean-François, van 't Wout, Angélique B., Schuitemaker, Hanneke

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Discovery of variants unmasked by hemizygous deletions 由 Hochstenbach, Ron, Poot, Martin, Nijman, Isaac J, Renkens, Ivo, Duran, Karen J, van'T Slot, Ruben, van Binsbergen, Ellen, van der Zwaag, Bert, Vogel, Maartje J, Terhal, Paulien A, Ploos van Amstel, Hans Kristian, Kloosterman, Wigard P, Cuppen, Edwin

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Genome-Wide Association Study Identifies Single Nucleotide Polymorphism in DYRK1A Associated with Replication of HIV-1 in Monocyte-Derived Macrophages 由 Bol, Sebastiaan M., Moerland, Perry D., Limou, Sophie, van Remmerden, Yvonne, Coulonges, Cédric, van Manen, Daniëlle, Herbeck, Joshua T., Fellay, Jacques, Sieberer, Margit, Sietzema, Jantine G., van 't Slot, Ruben, Martinson, Jeremy, Zagury, Jean-François, Schuitemaker, Hanneke, van 't Wout, Angélique B.

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Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer 由 Kloosterman, Wigard P, Hoogstraat, Marlous, Paling, Oscar, Tavakoli-Yaraki, Masoumeh, Renkens, Ivo, Vermaat, Joost S, van Roosmalen, Markus J, van Lieshout, Stef, Nijman, Isaac J, Roessingh, Wijnand, van 't Slot, Ruben, van de Belt, José, Guryev, Victor, Koudijs, Marco, Voest, Emile, Cuppen, Edwin

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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy 由 de Kovel, Carolien G.F., Meisler, Miriam H., Brilstra, Eva H., van Berkestijn, Frederique M.C., van ‘t Slot, Ruben, van Lieshout, Stef, Nijman, Isaac J, O'Brien, Janelle E., Hammer, Michael F., Estacion, Mark, Waxman, Stephen G., Dib-Hajj, Sulayman D., Koeleman, Bobby P.C.

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Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes 由 de Lange, Iris M., Weuring, Wout, van ‘t Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., McCormack, Mark, de Kovel, Carolien, van Gemert, Lisette J. J. M., Mulder, Flip, van Kempen, Marjan J. A., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.

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Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP 由 Zhernakova, Alexandra, Festen, Eleanora M., Franke, Lude, Trynka, Gosia, van Diemen, Cleo C., Monsuur, Alienke J., Bevova, Marianna, Nijmeijer, Rian M., van ‘t Slot, Ruben, Heijmans, Roel, Boezen, H. Marike, van Heel, David A., van Bodegraven, Adriaan A., Stokkers, Pieter C.F., Wijmenga, Cisca, Crusius, J. Bart A., Weersma, Rinse K.

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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism 由 van Daalen, Emma, Kemner, Chantal, Verbeek, Nienke E., van der Zwaag, Bert, Dijkhuizen, Trijnie, Rump, Patrick, Houben, Renske, van ‘t Slot, Ruben, de Jonge, Maretha V., Staal, Wouter G., Beemer, Frits A., Vorstman, Jacob A. S., Burbach, J. Peter H., van Amstel, Hans Kristian Ploos, Hochstenbach, Ron, Brilstra, Eva H., Poot, Martin

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Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus 由 Harakalova, Magdalena, van der Smagt, Jasper, de Kovel, Carolien G F, van't Slot, Ruben, Poot, Martin, Nijman, Isaac J, Medic, Jelena, Joziasse, Irene, Deckers, Jaap, Roos-Hesselink, Jolien W, Wessels, Marja W, Baars, Hubert F, Weiss, Marjan M, Pals, Gerard, Golmard, Lisa, Jeunemaitre, Xavier, Lindhout, Dick, Cuppen, Edwin, Baas, Annette F

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Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer 由 Hoogstraat, Marlous, de Pagter, Mirjam S., Cirkel, Geert A., van Roosmalen, Markus J., Harkins, Timothy T., Duran, Karen, Kreeftmeijer, Jennifer, Renkens, Ivo, Witteveen, Petronella O., Lee, Clarence C., Nijman, Isaac J., Guy, Tanisha, van ’t Slot, Ruben, Jonges, Trudy N., Lolkema, Martijn P., Koudijs, Marco J., Zweemer, Ronald P., Voest, Emile E., Cuppen, Edwin, Kloosterman, Wigard P.

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Structural genomic variation in childhood epilepsies with complex phenotypes 由 Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, Koeleman, Bobby PC

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Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration 由 Baas, Dominique C., Ho, Lintje, Tanck, Michael W.T., Fritsche, Lars G., Merriam, Joanna E., van het Slot, Ruben, Koeleman, Bobby P.C., Gorgels, Theo G.M.F., van Duijn, Cornelia M., Uitterlinden, André G., de Jong, Paulus T.V.M., Hofman, Albert, ten Brink, Jacoline B., Vingerling, Johannes R., Klaver, Caroline C.W., Dean, Michael, Weber, Bernhard H. F., Allikmets, Rando, Hageman, Gregory S., Bergen, Arthur A.B.

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Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism 由 van der Zwaag, Bert, Franke, Lude, Poot, Martin, Hochstenbach, Ron, Spierenburg, Henk A., Vorstman, Jacob A. S., van Daalen, Emma, de Jonge, Maretha V., Verbeek, Nienke E., Brilstra, Eva H., van 't Slot, Ruben, Ophoff, Roel A., van Es, Michael A., Blauw, Hylke M., Veldink, Jan H., Buizer-Voskamp, Jacobine E., Beemer, Frits A., van den Berg, Leonard H., Wijmenga, Cisca, van Amstel, Hans Kristian Ploos, van Engeland, Herman, Burbach, J. Peter H., Staal, Wouter G.

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A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy 由 Kuiper, Jonas J.W., Van Setten, Jessica, Ripke, Stephan, Van ‘T Slot, Ruben, Mulder, Flip, Missotten, Tom, Baarsma, G. Seerp, Francioli, Laurent C., Pulit, Sara L., De Kovel, Carolien G.F., Ten Dam-Van Loon, Ninette, Den Hollander, Anneke I., Huis in het Veld, Paulien, Hoyng, Carel B., Cordero-Coma, Miguel, Martín, Javier, Llorenç, Victor, Arya, Bharti, Thomas, Dhanes, Bakker, Steven C., Ophoff, Roel A., Rothova, Aniki, De Bakker, Paul I.W., Mutis, Tuna, Koeleman, Bobby P.C.

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy 由 de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C

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