نتائج البحث - "van Gassen, Koen L"

1

دورية أكاديمية

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

المؤلفون: Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan

المصدر: Kalm , T , Schob , C , Völler , H , Gardeitchik , T , Gilissen , C , Pfundt , R , Klöckner , C , Platzer , K , Klabunde-Cherwon , A , Ries , M , Syrbe , S , Beccaria , F , Madia , F , Scala , M , Zara , F , Hofstede , F , Simon , M E H , van Jaarsveld , R H , Oegema , R , van Gassen , K L I , Holwerda , S J B , Barakat , T S , Bouman ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/624c57f2-1963-4a12-b223-8fabe939ca92Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.04.019Test
https://pure.eur.nl/en/publications/624c57f2-1963-4a12-b223-8fabe939ca92Test
https://pure.eur.nl/ws/files/149159298/Etiological_involvement_of_KCND1_variants_in_an_X-linked_neurodevelopmental_disorder_with_variable_expressivit.pdfTest
http://www.scopus.com/inward/record.url?scp=85194546896&partnerID=8YFLogxKTest

View record in BASE

2

دورية أكاديمية

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

المصدر: Journal of Neurogenetics. 31(1-2)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/50g19653Test

View record in eScholarship

3

دورية أكاديمية

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

المؤلفون: Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin

المصدر: Cuinat , S , Nizon , M , Isidor , B , Stegmann , A , van Jaarsveld , R H , van Gassen , K L , van der Smagt , J J , Volker-Touw , C M L , Holwerda , S J B , Terhal , P A , Schuhmann , S , Vasileiou , G , Khalifa , M , Nugud , A A , Yasaei , H , Ousager , L B , Brasch-Andersen , C , Deb , W , Besnard , T , Simon , M E H , Amsterdam , K ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/40da9a50-b6d1-4326-b6d6-a0240ffd802dTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.04.011Test
https://cris.maastrichtuniversity.nl/en/publications/40da9a50-b6d1-4326-b6d6-a0240ffd802dTest

View record in BASE

4

دورية أكاديمية

The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”

المؤلفون: Vears, Danya F., Elferink, Martin, Kriek, Marjolein, Borry, Pascal, van Gassen, Koen L.

المصدر: Genetics in Medicine ; volume 24, issue 6, page 1306-1315 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.03.003Test
https://api.elsevier.com/content/article/PII:S1098360022006803?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022006803?httpAccept=text/plainTest

View record in BASE

5

تقرير

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders

المؤلفون: Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian

المصدر: Houdayer , C , Phillips , A M , Chabbert , M , Bourreau , J , Maroofian , R , Houlden , H , Richards , K , Saadi , N W , Dad'ová , E , Van Bogaert , P , Rupin , M , Keren , B , Charles , P , Smol , T , Riquet , A , Pais , L , O'Donnell-Luria , A , VanNoy , G E , Bayat , A , Møller , R S , Olofsson , K , Abou Jamra , R , Syrbe , S , Dasouki ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1101/2024.03.19.24303984Test
https://curis.ku.dk/portal/da/publications/mono-and-biallelic-variants-in-hcn2-cause-severe-neurodevelopmental-disordersTest(602b55ec-9937-4fd6-91b1-0c0f413ab3ff).html
https://curis.ku.dk/ws/files/390507927/2024.03.19.24303984v1.full.pdfTest

View record in BASE

6

دورية أكاديمية

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

المصدر: Kummeling, Joost; Stremmelaar, Diante E; Raun, Nicholas; Reijnders, Margot R F; Willemsen, Marjolein H; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C O; Gilissen, Christian; Cho, Megan T; McWalter, Kirsty; Sinnema, Margje; Wheless, James W; Simon, Marleen E H; Genetti, Casie A; Casey, Alicia M; Terhal, Paulien A; van der Smagt, Jasper J; van Gassen, Koen L I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A; Agrawal, Pankaj B; Hoffman, Trevor L; Powell-Hamilton, Nina N; Thiffault, Isabelle; et al (2021). Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. ....

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/192403/1/SETD1A_patients_paper_pre_print_Mol_Psych.pdfTest; https://www.zora.uzh.ch/id/eprint/192403/2/s41380-020-0725-5.pdfTest; info:pmid/32346159; urn:issn:1359-4184

الإتاحة: https://doi.org/10.5167/uzh-19240310.1038/s41380-020-0725-5Test
https://www.zora.uzh.ch/id/eprint/192403Test/
https://www.zora.uzh.ch/id/eprint/192403/1/SETD1A_patients_paper_pre_print_Mol_Psych.pdfTest
https://www.zora.uzh.ch/id/eprint/192403/2/s41380-020-0725-5.pdfTest

View record in BASE

7

دورية أكاديمية

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

المؤلفون: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J. M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B. A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T. R. M., Stevens, Servi J. C., Vermeulen, Jeroen R., van Harssel, Jeske V. T., Bosch, Danielle G. M., van Gassen, Koen L., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Ounap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, Maria, Pacio-Miguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tonne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Malgorzata J. M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E. L. M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

المصدر: Rots , D , Chater-Diehl , E , Dingemans , A J M , Goodman , S J , Siu , M T , Cytrynbaum , C , Choufani , S , Hoang , N , Walker , S , Awamleh , Z , Charkow , J , Meyn , S , Pfundt , R , Rinne , T , Gardeitchik , T , de Vries , B B A , Deden , A C , Leenders , E , Kwint , M , Stumpel , C T R M , Stevens , S J C , Vermeulen , ....

مصطلحات موضوعية: AT-HOOK, SOTOS-LIKE, EXON 34, MUTATIONS, GENE, PHENOTYPE, DIAGNOSIS, SPECTRUM, PROTEIN, EPISIGNATURES

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.008Test
https://cris.maastrichtuniversity.nl/en/publications/99084a89-ebc9-4e84-8e41-c146b945e160Test

View record in BASE

8

دورية أكاديمية

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

المؤلفون: Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E. H., Volker-Touw, Catharina M. L., van Gassen, Koen L. I., van Binsbergen, Ellen, Pfundt, Rolph, Gardeitchik, Thatjana, de Vries, Bert B. A., Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Iqbal, Muhammad

المصدر: Harris , H K , Nakayama , T , Lai , J , Zhao , B , Argyrou , N , Gubbels , C S , Soucy , A , Genetti , C A , Suslovitch , V , Rodan , L H , Tiller , G E , Lesca , G , Gripp , K W , Asadollahi , R , Hamosh , A , Applegate , C D , Turnpenny , P D , Simon , M E H , Volker-Touw , C M L , van Gassen , K L I , van Binsbergen , E ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048bTest

الإتاحة: https://doi.org/10.1038/s41436-021-01114-zTest
https://hdl.handle.net/11370/0cec700f-320f-489c-b994-f6f3010f048bTest
https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048bTest
https://pure.rug.nl/ws/files/177557532/s41436_021_01114_z.pdfTest

View record in BASE