المؤلفون: Carvill, Gemma L., Jansen, Sandra, Lacroix, Amy, Zemel, Matthew, Mehaffey, Michele, De Vries, Petra, Brunner, Han G., Scheffer, Ingrid E., De Vries, Bert B. A., Vissers, Lisenka E. L. M., Mefford, Heather C.

المصدر: Carvill , G L , Jansen , S , Lacroix , A , Zemel , M , Mehaffey , M , De Vries , P , Brunner , H G , Scheffer , I E , De Vries , B B A , Vissers , L E L M & Mefford , H C 2021 , ' Genetic convergence of developmental and epileptic encephalopathies and intellectual disability ' , Developmental Medicine and Child Neurology , vol. 63 , no. 12 , pp. 1441-1447 . https://doi.org/10.1111/dmcn.14989

مصطلحات موضوعية: DE-NOVO MUTATIONS, PHENOTYPIC HETEROGENEITY, VARIANTS, DISORDER, AUTISM

Relation: https://cris.maastrichtuniversity.nl/en/publications/89388678-91ef-4616-9a8b-b7cdb9709004

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/89388678-91ef-4616-9a8b-b7cdb9709004
https://doi.org/10.1111/dmcn.14989

المؤلفون: van der Werf, Ilse M., Jansen, Sandra, de Vries, Petra F., Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B. A., Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E. L. M., Kooy, R. Frank, Vandeweyer, Geert

المصدر: European Journal of Human Genetics ; volume 28, issue 12, page 1726-1733 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-020-0682-0
http://www.nature.com/articles/s41431-020-0682-0.pdf
http://www.nature.com/articles/s41431-020-0682-0

المؤلفون: Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Sacoto, Maria J. Guillen, van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Wassink-Ruiter, Jolien S. Klein, Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjorg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.

المصدر: Jansen , S , van der Werf , I M , Innes , A M , Afenjar , A , Agrawal , P B , Anderson , I J , Atwal , P S , van Binsbergen , E , van den Boogaard , M-J , Castiglia , L , Coban-Akdemir , Z H , van Dijck , A , Doummar , D , van Eerde , A M , van Essen , A J , van Gassen , K L , Sacoto , M J G , van Haelst , M M , Iossifov , I , Jackson ....

مصطلحات موضوعية: UBIQUITIN LIGASES, MUTATIONS, GENE, SPECTRUM, E3, PHENOTYPE, IDENTIFICATION, GENEMATCHER, CANCER, FAMILY

Relation: https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4
https://doi.org/10.1038/s41431-018-0292-2

المؤلفون: Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E. A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E. L. M., de Vries, Bert B. A.

المصدر: Jansen , S , Geuer , S , Pfundt , R , Brough , R , Ghongane , P , Herkert , J C , Marco , E J , Willemsen , M H , Kleefstra , T , Hannibal , M , Shieh , J T , Lynch , S A , Flinter , F , FitzPatrick , D R , Gardham , A , Bernhard , B , Ragge , N , Newbury-Ecob , R , Bernier , R , Kvarnung , M , Magnusson , E A H , Wessels , M W , van Slegtenhorst ....

مصطلحات موضوعية: DOMINANT ROBINOW SYNDROME, SCHIZOPHRENIA, FRAMESHIFT, SPECTRUM, DISEASE, AUTISM, CANCER, BLOOD, GENE, WIP1

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/e9191fda-0414-4f4f-b07c-1363eae01dfe
https://doi.org/10.1016/j.ajhg.2017.02.005

المؤلفون: Ba, Wei, Yan, Yan, Reijnders, Margot R. F., Schuurs-Hoeijmakers, Janneke H. M., Feenstra, Ilse, Bongers, Ernie M. H. F., Bosch, Danielle G. M., De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E. L. M., Kasri, Nael Nadif, De Vries, Bert B. A.

المصدر: Ba , W , Yan , Y , Reijnders , M R F , Schuurs-Hoeijmakers , J H M , Feenstra , I , Bongers , E M H F , Bosch , D G M , De Leeuw , N , Pfundt , R , Gilissen , C , De Vries , P F , Veltman , J A , Hoischen , A , Mefford , H C , Eichler , E E , Vissers , L E L M , Kasri , N N & De Vries , B B A 2016 , ' TRIO loss of ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d018d091-7794-4532-8f08-6ddfeae41a9c
https://doi.org/10.1093/hmg/ddv618

المؤلفون: Lugtenberg, Dorien, Reijnders, Margot R. F., Fenckova, Michaela, Bijlsma, Emilia K., Bernier, Raphael, van Bon, Bregje W. M., Smeets, Eric, Vulto-van Silfhout, Anneke T., Bosch, Danielle, Eichler, Evan E., Mefford, Heather C., Carvill, Gemma L., Bongers, Ernie M. H. F., Schuurs-Hoeijmakers, Janneke H. M., Ruivenkamp, Claudia A., Santen, Gijs W. E., van den Maagdenberg, Arn M. J. M., Peeters-Scholte, Cacha M. P. C. D., Kuenen, Sabine, Verstreken, Patrik, Pfundt, Rolph, Yntema, Helger G., de Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Gilissen, Christian, de Vries, Bert B. A., Schenck, Annette, Kleefstra, Tjitske, Vissers, Lisenka E. L. M.

المصدر: Lugtenberg , D , Reijnders , M R F , Fenckova , M , Bijlsma , E K , Bernier , R , van Bon , B W M , Smeets , E , Vulto-van Silfhout , A T , Bosch , D , Eichler , E E , Mefford , H C , Carvill , G L , Bongers , E M H F , Schuurs-Hoeijmakers , J H M , Ruivenkamp , C A , Santen , G W E , van den Maagdenberg , A M J M , Peeters-Scholte , C M P C D ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/1526e2f9-c5f8-43dc-bc42-d94c6db6551d
https://doi.org/10.1038/ejhg.2015.282

المؤلفون: de Vries, Petra

المصدر: SEX, SIN AND SUFFERING ; page 44-60 ; ISBN 9780203164105 9780203300510

الاتاحة: http://dx.doi.org/10.4324/9780203300510_chapter_3

المؤلفون: Vulto-van Silfhout, Anneke T., Rajamanickam, Shivakumar, Jensik, Philip J., Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J., Raghavan, Ramya, Reardon, Sara N., Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L., Huggenvik, Jodi I., McKnight, G. Stanley, Rose, Gregory M., Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W.M., Lugtenberg, Dorien, de Vries, Petra F., Veltman, Joris A., van Bokhoven, Hans, Brunner, Han G., Rauch, Anita, de Brouwer, Arjan P.M., Carvill, Gemma L., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Menten, Björn, Collard, Michael W., de Vries, Bert B.A.

المصدر: The American Journal of Human Genetics ; volume 96, issue 1, page 178 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2014.12.019
https://api.elsevier.com/content/article/PII:S0002929714005254?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929714005254?httpAccept=text/plain

المؤلفون: van Binnendijk, Robert S., Poelen, Martien C. M., van Amerongen, Geert, de Vries, Petra, Osterhaus, Albert D. M. E.

المصدر: The Journal of Infectious Diseases, 1997 Mar 01. 175(3), 524-532.

URL الوصول: https://www.jstor.org/stable/30130033

المؤلفون: Vulto-van Silfhout, Anneke T, Rajamanickam, Shivakumar, Jensik, Philip J, Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J, Raghavan, Ramya, Reardon, Sara N, Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L, Huggenvik, Jodi I, McKnight, G Stanley, Rose, Gregory M, Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W M, Lugtenberg, Dorien, de Vries, Petra F, Veltman, Joris A, van Bokhoven, Hans, Brunner, Han G, Rauch, Anita, de Brouwer, Arjan P M, Carvill, Gemma L, Hoischen, Alexander, Mefford, Heather C, Eichler, Evan E, Vissers, Lisenka E L M, Menten, Björn, Collard, Michael W, de Vries, Bert B A

المصدر: Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; ....

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

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/99947/1/Vulto-van%20Silfhout%20et%20al,%20Mutations%20affecting%20the%20SAND.pdf; info:pmid/24726472; urn:issn:0002-9297

الاتاحة: https://www.zora.uzh.ch/id/eprint/99947/
https://doi.org/10.1016/j.ajhg.2014.03.013

المؤلفون: Thung, Djie Tjwan, de Ligt, Joep, Vissers, Lisenka EM, Steehouwer, Marloes, Kroon, Mark, de Vries, Petra, Slagboom, Eline P, Ye, Kai, Veltman, Joris A, Hehir-Kwa, Jayne Y

المصدر: Genome Biology ; volume 15, issue 10 ; ISSN 1474-760X

الاتاحة: http://dx.doi.org/10.1186/s13059-014-0488-x
http://link.springer.com/content/pdf/10.1186/s13059-014-0488-x.pdf
http://link.springer.com/article/10.1186/s13059-014-0488-x/fulltext.html
http://link.springer.com/content/pdf/10.1186/s13059-014-0488-x

المؤلفون: van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander

المصدر: The American Journal of Human Genetics ; volume 90, issue 6, page 1094-1101 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2012.04.014
https://api.elsevier.com/content/article/PII:S0002929712002170?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929712002170?httpAccept=text/plain

المؤلفون: Becker, Jutta, Semler, Oliver, Gilissen, Christian, Li, Yun, Bolz, Hanno Jörn, Giunta, Cecilia, Bergmann, Carsten, Rohrbach, Marianne, Koerber, Friederike, Zimmermann, Katharina, de Vries, Petra, Wirth, Brunhilde, Schoenau, Eckhard, Wollnik, Bernd, Veltman, Joris A., Hoischen, Alexander, Netzer, Christian

المصدر: The American Journal of Human Genetics ; volume 88, issue 3, page 362-371 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2011.01.015
https://api.elsevier.com/content/article/PII:S0002929711000164?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929711000164?httpAccept=text/plain

المؤلفون: De Vries, Petra

المصدر: Women's History Review ; volume 17, issue 2, page 257-277 ; ISSN 0961-2025 1747-583X

الاتاحة: http://dx.doi.org/10.1080/09612020701707274
http://www.tandfonline.com/doi/pdf/10.1080/09612020701707274

المؤلفون: van der Werf, Ilse, Jansen, Sandra, de Vries, Petra F., Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B. A., Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E. L. M., Kooy, Frank, Vandeweyer, Geert

المصدر: 1018-4813 ; European journal of human genetics

مصطلحات موضوعية: Chemistry, Biology, Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000547216100001

الاتاحة: https://hdl.handle.net/10067/1706380151162165141

المؤلفون: de Vries, Petra

المصدر: Social & Legal Studies ; volume 14, issue 1, page 39-60 ; ISSN 0964-6639 1461-7390

الاتاحة: https://doi.org/10.1177/0964663905049525
https://journals.sagepub.com/doi/pdf/10.1177/0964663905049525

المؤلفون: hoogland, renée c., de Vries, Petra, van der Tuin, Iris

المصدر: European Journal of Women's Studies ; volume 11, issue 4, page 461-472 ; ISSN 1350-5068 1461-7420

الاتاحة: https://doi.org/10.1177/1350506804046817
https://journals.sagepub.com/doi/pdf/10.1177/1350506804046817

المؤلفون: Carvill, Gemma L, Jansen, Sandra, Lacroix, Amy, Zemel, Matthew, Mehaffey, Michele, De Vries, Petra, Brunner, Han G, Scheffer, Ingrid E, De Vries, Bert B A, Vissers, Lisenka E L M, Mefford, Heather C

المصدر: Developmental Medicine & Child Neurology; Dec2021, Vol. 63 Issue 12, p1441-1447, 7p

مصطلحات موضوعية: INTELLECTUAL disabilities, PEOPLE with epilepsy, NEURAL development, ODDS ratio, CONFIDENCE intervals

المؤلفون: Genetica, UMC Utrecht, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P.A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E.L.M., de Vries, Bert B.A.

URL: https://doi.org/10.1038/s41431-018-0292-2
http://hdl.handle.net/1874/391356
https://dspace.library.uu.nl/handle/1874/391356
http://www.scopus.com/inward/record.url?scp=85060725630&partnerID=8YFLogxK
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