Hakutulokset - van Slegtenhorst, Marjon

Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder Tekijä Harper, Callista B., Mancini, Grazia M.S., van Slegtenhorst, Marjon, Cousin, Michael A.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Left-ventricular outflow tract acceleration time is associated with symptoms in patients with obstructive hypertrophic cardiomyopathy Tekijä Huurman, Roy, Michels, Michelle, Bowen, Daniel J., van Slegtenhorst, Marjon A., Hirsch, Alexander, Schinkel, Arend F. L.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report Tekijä Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, van Bever, Yolande, Hellebrekers, Debby M. E. I., van Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan

Hae kokoteksti Hae kokoteksti Hae kokoteksti

The Slow Axonal Transport of the Microtubule-Associated Protein Tau and the Transport Rates of Different Isoforms and Mutants in Cultured Neurons Tekijä Utton, Michelle A., Connell, James, Asuni, Ayodeji A., van Slegtenhorst, Marjon, Hutton, Michael, de Silva, Rohan, Lees, Andrew J., Miller, Chris C. J., Anderton, Brian H.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B Tekijä Fatalska, Agnieszka, Hodgson, George, Freund, Stefan M.V., Maslen, Sarah L., Morgan, Tomos, Thorkelsson, Sigurdur R., van Slegtenhorst, Marjon, Lorenz, Sonja, Andreeva, Antonina, Kaat, Laura Donker, Bertolotti, Anne

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia Tekijä Smits, Daphne J., Schot, Rachel, Wilke, Martina, van Slegtenhorst, Marjon, de Wit, Marie Claire Y., Dremmen, Marjolein H.G., Dobyns, William B., Barkovich, A. James, Mancini, Grazia M.S.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Novel Morphological Features on CMR for the Prediction of Pathogenic Sarcomere Gene Variants in Subjects Without Hypertrophic Cardiomyopathy Tekijä van der Velde, Nikki, Huurman, Roy, Hassing, H. Carlijne, Budde, Ricardo P. J., van Slegtenhorst, Marjon A., Verhagen, Judith M. A., Schinkel, Arend F. L., Michels, Michelle, Hirsch, Alexander

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Diagnostic Cardiovascular Magnetic Resonance Imaging Criteria in Noncompaction Cardiomyopathy and the Yield of Genetic Testing Tekijä van Waning, Jaap I., Caliskan, Kadir, Chelu, Raluca G., van der Velde, Nikki, Pezzato, Andrea, Michels, Michelle, van Slegtenhorst, Marjon A., Boersma, Eric, Nieman, Koen, Majoor-Krakauer, Danielle, Hirsch, Alexander

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes Tekijä Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant Tekijä Rumping, Lynne, Wessels, Marja W., Postma, Alex V., van Schuppen, Joost, van Slegtenhorst, Marjon A., Saris, Jasper J., van Tintelen, J. Peter, Robertson, Stephen P., Alders, Mariëlle, Maas, Saskia M., Deprez, Ronald H. Lekanne

Hae kokoteksti Hae kokoteksti Hae kokoteksti

TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction Tekijä Zada, Almira, Kuil, Laura E., de Graaf, Bianca M., Kakiailatu, Naomi, Windster, Jonathan D., Brooks, Alice S., van Slegtenhorst, Marjon, de Koning, Barbara, Wijnen, René M. H., Melotte, Veerle, Hofstra, Robert M. W., Brosens, Erwin, Alves, Maria M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis Tekijä Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Variants in DOCK3 cause developmental delay and hypotonia Tekijä Wiltrout, Kimberly, Ferrer, Alejandro, van de Laar, Ingrid, Namekata, Kazuhiko, Harada, Takayuki, Klee, Eric W., Zimmerman, Michael T., Cousin, Margot A., Kempainen, Jennifer L., Babovic-Vuksanovic, Dusica, van Slegtenhorst, Marjon A., Aarts-Tesselaar, Coranne D., Schnur, Rhonda E., Andrews, Marisa, Shinawi, Marwan

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features Tekijä Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy Tekijä Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas

Hae kokoteksti Hae kokoteksti Hae kokoteksti

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy Tekijä Ragamin, Aviel, Gomes, Carolina C, Bindels-de Heus, Karen, Sandoval, Renata, Bassenden, Angelia V, Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, Gomez, Ricardo Santiago

Hae kokoteksti Hae kokoteksti Hae kokoteksti

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene Tekijä Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., van Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., van de Putte, Romy, van Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study Tekijä Den Boer, Monique L., van Slegtenhorst, Marjon, De Menezes, Renée X., Cheok, Meyling H., Buijs-Gladdines, Jessica G.C.A.M., Peters, Susan T.C.J.M., Van Zutven, Laura J.C.M., Beverloo, H. Berna, Van der Spek, Peter J., Escherich, Gaby, Horstmann, Martin A., Janka-Schaub, Gritta E., Kamps, Willem A., Evans, William E., Pieters, Rob

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Human mutations in integrator complex subunits link transcriptome integrity to brain development Tekijä Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Slegtenhorst, Marjon, Dobyns, William B., de Coo, Irenaeus F. M., Verheijen, Frans W., Kremer, Andreas, van der Spek, Peter J., Heijsman, Daphne, Wagner, Eric J., Fornerod, Maarten, Mancini, Grazia M. S.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion Tekijä van Schie, Janne J. M., Faramarz, Atiq, Balk, Jesper A., Stewart, Grant S., Cantelli, Erika, Oostra, Anneke B., Rooimans, Martin A., Parish, Joanna L., de Almeida Estéves, Cynthia, Dumic, Katja, Barisic, Ingeborg, Diderich, Karin E. M., van Slegtenhorst, Marjon A., Mahtab, Mohammad, Pisani, Francesca M., te Riele, Hein, Ameziane, Najim, Wolthuis, Rob M. F., de Lange, Job

Hae kokoteksti Hae kokoteksti Hae kokoteksti