Resultados da pesquisa - van'T Slot, Ruben

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

The SPINK gene family and celiac disease susceptibility Por 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

Obter o texto integral Obter o texto integral Obter o texto integral

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Modifier genes in SCN1A‐related epilepsy syndromes Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Genome-Wide Association Scan in HIV-1-Infected Individuals Identifying Variants Influencing Disease Course Por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Discovery of variants unmasked by hemizygous deletions Por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Genome-Wide Association Study Identifies Single Nucleotide Polymorphism in DYRK1A Associated with Replication of HIV-1 in Monocyte-Derived Macrophages Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer Por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism Por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus Por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Structural genomic variation in childhood epilepsies with complex phenotypes Por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration Por 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.

Obter o texto integral Obter o texto integral

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy Por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy Por 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

Obter o texto integral Obter o texto integral Obter o texto integral