المؤلفون: Sanden, B. van der, Schobers, G.M.G., Corominas-Galbany, J., Koolen, D.A., Sinnema, M., Reeuwijk, J. van, Stumpel, C.T., Kleefstra, T., Vries, B.B. de, Ruiterkamp-Versteeg, M., Leijsten, N., Kwint, M.P., Derks, R.C., Swinkels, H.L., Ouden, A.P.M. den, Pfundt, R.P., Rinne, T.K., Leeuw, N. de, Stegmann, A.P.A., Stevens, S.J.C., Wijngaard, A. van den, Brunner, H.G., Yntema, H.G., Gilissen, C., Nelen, M.R., Vissers, L.E.L.M.

المصدر: European Journal of Human Genetics; 81; 88; 1018-4813; 1; 31; ~European Journal of Human Genetics~81~88~~~1018-4813~1~31~~

URL: https://repository.ubn.ru.nl/handle/2066/290609

المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.

المصدر: American Journal of Human Genetics; 963; 978; 0002-9297; 6; 110; ~American Journal of Human Genetics~963~978~~~0002-9297~6~110~~

URL: https://repository.ubn.ru.nl/handle/2066/293631

المؤلفون: Peluso, F., Caraffi, S.G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A.M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M.T., Dentici, M.L., Devriendt, K., Bellini, M., Digilio, M.C., Doja, A., Dyment, D.A., Farholt, S., Ferreira, C.R., Wolfe, L.A., Gahl, W.A., Gnazzo, M., Goel, H., Grønborg, S.W., Hammer, T., Iughetti, L., Kleefstra, T., Koolen, D.A., Lepri, F.R., Lemire, G., Louro, P., McCullagh, G., Madeo, S.F., Milone, A., Milone, R., Nielsen, Jens Cosedis, Novelli, A., Ockeloen, C.W., Pascarella, R., Pippucci, T., Ricca, I., Robertson, S.P., Sawyer, S., Falkenberg Smeland, M., Stegmann, S., Stumpel, C.T., Goel, A., Taylor, J.M., Barbuti, D., Soresina, A., Bedeschi, M.F., Battini, R., Cavalli, A., Fusco, C., Iascone, M., Maldergem, L. Van, Venkateswaran, S., Zuffardi, O., Vergano, S., Garavelli, L., Bayat, A.

المصدر: Journal of Medical Genetics, 60, 12, pp. 1224-1234

مصطلحات الفهرس: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Article / Letter to editor

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/299952/299952.pdf
https://repository.ubn.ru.nl/handle/2066/299952

المؤلفون: Bayat, A., Valles-Ibanez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M.S., Jezela-Stanek, A., Jouk, P.S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J.R., Li, H., Martinez, F., Maxton, C., Mefford, H.C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L.E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E.M.C., Stegmann, A.P.A., Stumpel, C.T.

المصدر: Bayat , A , Valles-Ibanez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S , Keren ....

مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, HYPOTONIA-SEIZURES SYNDROME, CONGENITAL-ANOMALIES, PRENATAL-DIAGNOSIS, MUTATION, PHENOTYPE, PROTEINS

Relation: https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0
https://doi.org/10.1111/epi.17173

المؤلفون: Kim, J.H., Shinde, D.N., Reijnders, M.R., Hauser, N.S., Belmonte, R.L., Wilson, G.R., Bosch, D.G., Bubulya, P.A., Shashi, V., Petrovski, S., Stone, J.K., Park, E.Y., Veltman, J.A., Sinnema, M., Stumpel, C.T., Draaisma, J.M., Nicolai, J., Yntema, H.G., Lindström, K., de Vries, B.B., Jewett, T., Santoro, S.L., Vogt, J., Bachman, K.K., Seeley, A.H., Krokosky, A., Turner, C., Rohena, L., Hempel, M., Kortüm, F., Lessel, D., Neu, A., Strom, T.M., Wieczorek, D., Bramswig, N., Laccone, F.A., Behunova, J., Rehder, H., Gordon, C.T., Rio, M., Romana, S., Tang, S., El-Khechen, D., Cho, M.T., McWalter, K., Douglas, G., Baskin, B., Begtrup, A., Funari, T., Schoch, K., Stegmann, A.P., Stevens, S.J., Zhang, D.E., Traver, D., Yao, X., MacArthur, D.G., Brunner, H.G., Mancini, G.M., Myers, R.M., Owen, L.B., Lim, S.T., Stachura, D.L., Vissers, L.E., Ahn, E.E.

المصدر: Am. J. Hum. Genet. 99, 711-719 (2016)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/27545680; info:eu-repo/semantics/altIdentifier/wos/WOS:000383114800016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49304; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49304
https://doi.org/10.1016/j.ajhg.2016.06.029

المؤلفون: Granadillo, J.L., Stegmann, A.P.A., Guo, H., Xia, K., Angle, B., Bontempo, K., Ranells, J.D., Newkirk, P., Costin, C., Viront, J., Stumpel, C.T., Sinnema, M., Panis, B., Pfundt, R., Krapels, I.P.C., Klaassens, M., Nicolai, J., Li, J.L., Jiang, Y.W., Marco, E., Canton, A., Latronico, A.C., Montenegro, L., Leheup, B., Bonnet, C., Amudhavalli, S.M., Lawson, C.E., McWalter, K., Telegrafi, A., Pearson, R., Kvarnung, M., Wang, X., Bi, W.M., Rosenfeld, J.A., Shinawi, M.

المصدر: Granadillo , J L , Stegmann , A P A , Guo , H , Xia , K , Angle , B , Bontempo , K , Ranells , J D , Newkirk , P , Costin , C , Viront , J , Stumpel , C T , Sinnema , M , Panis , B , Pfundt , R , Krapels , I P C , Klaassens , M , Nicolai , J , Li , J L , Jiang , Y W , Marco , E , Canton , A , Latronico , A C , Montenegro ....

مصطلحات موضوعية: adhd, argonaute, autism, autosomal dominant, de novo, de-novo, developmental delay, growth, intellectual disability, mutations

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/42ae0725-c7c2-4040-98ad-2ee3972ce450
https://doi.org/10.1136/jmedgenet-2019-106470

المؤلفون: Shashi, V., Pena, L.D., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H.M., Cho, M, Stong, N., Hickey, S.E., Shuss, C.M., Freemark, M.S., Bellet, J.S., Keels, M.A., Bonner, M.J., El-Dairi, M., Butler, M, Kranz, P.G., Stumpel, C.T., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkila, S., Pietilainen, O., Aarno, P., Kurki, M.I., Hoischen, A., Need, A.C., Goldstein, D.B, Kortum, F.

المصدر: American Journal of Human Genetics, 100, 1, pp. 179

مصطلحات موضوعية: Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/170308

الاتاحة: http://hdl.handle.net/2066/170308
https://doi.org/10.1016/j.ajhg.2016.12.004

المؤلفون: Shashi, V., Pena, L.D., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H.M., Cho, M, Stong, N., Hickey, S.E., Shuss, C.M., Freemark, M.S., Bellet, J.S., Keels, M.A., Bonner, M.J., El-Dairi, M., Butler, M, Kranz, P.G., Stumpel, C.T., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkila, S., Pietilainen, O., Aarno, P., Kurki, M.I., Hoischen, A., Need, A.C., Goldstein, D.B, Kortum, F.

المصدر: American Journal of Human Genetics, 99, 4, pp. 991-999

مصطلحات موضوعية: Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/167201; https://doi.org/10.1016/j.ajhg.2016.08.017

الاتاحة: http://hdl.handle.net/2066/167201
https://doi.org/10.1016/j.ajhg.2016.08.017

المؤلفون: Hillen, L.M., Kamsteeg, E.J., Schoots, J., Tiebosch, A.T., Speel, E.J., Roemen, G.M., Peutz-Koostra, C.J., Stumpel, C.T.

المصدر: Fetal and Pediatric Pathology, 35, 2, pp. 112-9

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/168099/168099.pdf; http://hdl.handle.net/2066/168099; https://doi.org/10.3109/15513815.2016.1139018

الاتاحة: http://hdl.handle.net/2066/168099
https://repository.ubn.ru.nl//bitstream/handle/2066/168099/168099.pdf
https://doi.org/10.3109/15513815.2016.1139018

المؤلفون: Lee, J.R., Srour, M., Kim, D., Hamdan, F.F., Lim, S.H., Brunel-Guitton, C., Decarie, J.C., Rossignol, E., Mitchell, G.A., Schreiber, A., Moran, R., Haren, K. van, Richardson, R., Nicolai, J., Oberndorff, K.M., Wagner, J.D., Boycott, K.M., Rahikkala, E., Junna, N., Tyynismaa, H., Cuppen, I., Verbeek, N.E., Stumpel, C.T., Willemsen, M.A., Munnik, S.A. de, Rouleau, G.A., Kim, E., Kamsteeg, E.J., Kleefstra, T., Michaud, J.L.

المصدر: Human Mutation, 36, 1, pp. 69-78

مصطلحات موضوعية: Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences

Relation: http://hdl.handle.net/2066/154936; https://doi.org/10.1002/humu.22709

الاتاحة: http://hdl.handle.net/2066/154936
https://doi.org/10.1002/humu.22709

المؤلفون: Moog, U., Bierhals, T., Brand, K, Bautsch, J., Biskup, S., Brune, T., Denecke, J., Die-Smulders, C.E.M. de, Evers, C., Hempel, M., Henneke, M., Yntema, H.G., Menten, B., Pietz, J., Pfundt, R.P., Schmidtke, J., Steinemann, D., Stumpel, C.T., Maldergem, L. Van, Kutsche, K.

المصدر: Orphanet Journal of Rare Diseases, 10, 1, pp. 44

مصطلحات موضوعية: Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/153652/153652.pdf; http://hdl.handle.net/2066/153652

الاتاحة: http://hdl.handle.net/2066/153652
https://repository.ubn.ru.nl//bitstream/handle/2066/153652/153652.pdf
https://doi.org/10.1186/s13023-015-0256-3

المؤلفون: Castermans, Dries, Vermeesch, Joris, Schrander-Stumpel, C.T., Fryns, Jean-Pierre, Van de Ven, Willem, Steyaert, Jean, Creemers, John, Devriendt, Koenraad

Relation: European Journal of Human Genetics vol:12 issue:suppl. 1 pages:76-77; European Human Genetics Conference location:Munich, Germany date:June 12-15, 2004; https://lirias.kuleuven.be/handle/123456789/261520

الاتاحة: https://lirias.kuleuven.be/handle/123456789/261520

المؤلفون: Sinnema, M., Maaskant, M.A., Lantman-de Valk, H.M., van Nieuwpoort, I.C., Drent, M.L., Curfs, L.M., Schrander-Stumpel, C.T.

المصدر: Sinnema , M , Maaskant , M A , Lantman-de Valk , H M , van Nieuwpoort , I C , Drent , M L , Curfs , L M & Schrander-Stumpel , C T 2011 , ' Physical Health Problems in Adults With Prader-Willi Syndrome ' , American Journal of Medical Genetics Part A , vol. 155 , no. 9 , pp. 2112-2124 . https://doi.org/10.1002/ajmg.a.34171

الاتاحة: https://research.vumc.nl/en/publications/262e113b-8a7c-4132-8696-6a5887ea42bb
https://doi.org/10.1002/ajmg.a.34171

المؤلفون: Paulussen, A.D.C., Schrander-Stumpel, C.T., Tserpelis, D.C.J., Spee, M.K.M., Stegmann, A.P.A., Mancini, G.M., Brooks, A.S., Collee, M., Maat-Kievit, A., Simon, M.E.H., van Bever, Y., Stolte-Dijkstra, I., Kerstjens-Frederikse, W.S., Herkert, J.C., van Essen, A.J., Lichtenbelt, K.D., van Haeringen, A., Kwee, M.L., Lachmeijer, A.M.A., Sindhunata, M.B., van Maarle, M.C., Arens, Y.H.J.M., Smeets, E.E.J.G., de Die-Smulders, C.E., Engelen, J.J.M., Smeets, H.J., Herbergs, J.

المصدر: Paulussen , A D C , Schrander-Stumpel , C T , Tserpelis , D C J , Spee , M K M , Stegmann , A P A , Mancini , G M , Brooks , A S , Collee , M , Maat-Kievit , A , Simon , M E H , van Bever , Y , Stolte-Dijkstra , I , Kerstjens-Frederikse , W S , Herkert , J C , van Essen , A J , Lichtenbelt , K D , van Haeringen , A , Kwee , M L , Lachmeijer , A M A , ....

الاتاحة: https://research.vumc.nl/en/publications/7a4d75e9-5b4d-42b4-ae49-8f8e3b0da2cb
https://doi.org/10.1038/ejhg.2010.70

المؤلفون: Houwink, E.J., Muijtjens, A.M., Teeffelen, S.R. van, Henneman, L., Rethans, J.J., Jacobi, F., Jagt, L. van der, Stirbu, I., Luijk, S.J. van, Stumpel, C.T., Meijers-Heijboer, H.E., Vleuten, C.P.M. van der, Cornel, M.C, Dinant, G.J.

المصدر: PLoS One; 1932-6203; 4; 10; e0122648; ~PLoS One~~~~~1932-6203~4~10~~e0122648

URL: http://hdl.handle.net/2066/155120

المؤلفون: Smeets, E.E.J., Julu, P.O., van Waardenburg, D.A., Engerstrom, I.W., Hansen, S., Apartopoulos, F., Curfs, L.M.G., Schrander-Stumpel, C.T.

المصدر: Smeets , E E J , Julu , P O , van Waardenburg , D A , Engerstrom , I W , Hansen , S , Apartopoulos , F , Curfs , L M G & Schrander-Stumpel , C T 2006 , ' Management of a severe forceful breather with Rett syndrome using carbogen ' , Brain & Development , vol. 28 , no. 10 , pp. 625-632 . https://doi.org/10.1016/j.braindev.2006.04.010

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/6e40f989-7f6b-4ebb-8a79-58e49dbe5659
https://doi.org/10.1016/j.braindev.2006.04.010

المؤلفون: Boer, L. de, Kant, S., Karperien, M., Beers, L. van, Tjon, J., Vink, G.R., Tol, D. van, Dauwerse, H.G., Cessie, S. le, Beemer, F.A., Burgt, C.J.A.M. van der, Hamel, B.C.J., Hennekam, R.C.M., Kuhnle, U., Mathijssen, I.B., Veenstra-Knol, H.E., Stumpel, C.T., Breuning, M.H., Wit, J.M.

المصدر: Hormone Research, 62, 4, pp. 197-207

مصطلحات موضوعية: UMCN 5.1: Genetic defects of metabolism

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/58369/58369.pdf; https://hdl.handle.net/2066/58369

الاتاحة: https://hdl.handle.net/2066/58369
https://repository.ubn.ru.nl//bitstream/handle/2066/58369/58369.pdf
https://doi.org/10.1159/000081063