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1دورية أكاديمية
المؤلفون: Rodriguez-Palmero, A, Boerrigter, MM, Gomez-Andres, D, Aldinger, KA, Marcos-Alcalde, I, Popp, B, Everman, DB, Lovgren, AK, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, AM, Bjerregaard, VA, Bruel, AL, Challman, TD, Cogne, B, Coubes, C, de Man, SA, Denomme-Pichon, AS, Dye, TJ, Elmslie, F, Feuk, L, Garcia-Minaur, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, TB, Haldeman-Englert, CR, Haukanes, BI, Hoyer, J, Hurst, ACE, Isidor, B, Soller, MJ, Kushary, S, Kvarnung, M, Landau, YE, Leppig, KA, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, BA, Moghadasi, S, Morton, JE, Moutton, S, Muuller, AJ, O'Leary, M, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, MJ, Ruivenkamp, CAL, Sarrazin, E, Savatt, JM, Schluter, A, Schonewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, JT, Shohat, M, Spranger, S, Thiese, H, Mau-Them, FT, van Bon, B, van de Burgt, I, van de Laar, IMBH, van Drie, E, van Haelst, MM, van Ravenswaaij-Arts, CM, Verdura, E, Vitobello, A, Waldmuller, S, Whiting, S, Zweier, C, Prada, CE, de Vries, BBA, Dobyns, WB, Reiter, SF, Gomez-Puertas, P, Pujol, A, Tumer, Z
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Bosch, E, Popp, B, Güse, E, Skinner, C, van der Sluijs, PJ, Maystadt, I, Pinto, AM, Renieri, A, Bruno, LP, Granata, S, Marcelis, C, Baysal, Ö, Hartwich, D, Holthöfer, L, Isidor, B, Cogne, B, Wieczorek, D, Capra, V, Scala, M, De Marco, P, Ognibene, M, Jamra, RA, Platzer, K, Carter, LB, Kuismin, O, van Haeringen, A, Maroofian, R, Valenzuela, I, Cuscó, I, Martinez-Agosto, JA, Rabani, AM, Mefford, HC, Pereira, EM, Close, C, Anyane-Yeboa, K, Wagner, M, Hannibal, MC, Zacher, P, Thiffault, I, Beunders, G, Umair, M, Bhola, PT, McGinnis, E, Millichap, J, van de Kamp, JM, Prijoles, EJ, Dobson, A, Shillington, A, Graham, BH, Garcia, EJ, Galindo, MK, Ropers, FG, Nibbeling, EAR, Hubbard, G, Karimov, C, Goj, G, Bend, R, Rath, J, Morrow, MM, Millan, F, Salpietro, V, Torella, A, Nigro, V, Kurki, M, Stevenson, RE, Santen, GWE, Zweier, M, Campeau, PM, Severino, M, Reis, A, Accogli, A, Vasileiou, G
المصدر: Genetics in Medicine , 25 (11) , Article 100950. (2023) (In press).
مصطلحات موضوعية: BAF, BAFopathy, Coffin-Siris syndrome, NDD, Nicolaides-Baraitser syndrome, SMARCC2, neurodevelopmental disorder
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181019Test/
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3دورية أكاديمية
المؤلفون: Van der Spek, J., Den Hoed, J., Snijders Blok, L., Dingemans, A., Schijven, D., Nellaker, C., Venselaar, H., Astuti, G., Barakat, T., Bebin, E., Beck-Wödl, S., Beunders, G., Brown, N., Brunet, T., Brunner, H., Campeau, P., Čuturilo, G., Gilissen, C., Haack, T., Hüning, I., Husain, R., Kamien, B., Lim, S., Lovrecic, L., Magg, J., Maver, A., Miranda, V., Monteil, D., Ockeloen, C., Pais, L., Plaiasu, V., Raiti, L., Richmond, C., Rieß, A., Schwaibold, E., Simon, M., Spranger, S., Tan, T., Thompson, M., De Vries, B., Wilkins, E., Willemsen, M., Francks, C., Vissers, L., Fisher, S., Kleefstra, T.
المصدر: Genetics in Medicine
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
العلاقة: http://hdl.handle.net/21.11116/0000-000A-1046-5Test; http://hdl.handle.net/21.11116/0000-000A-94E3-ETest; http://hdl.handle.net/21.11116/0000-000A-94E4-DTest; http://hdl.handle.net/21.11116/0000-000A-94E5-CTest
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4كتاب
المؤلفون: Beunders, G.
المصدر: Beunders , G 2018 , ' Genetics of intellectual ability and disability : The importance of common variants and rare syndromes illustrated by studies of SNAP25 and AUTS2 ' , PhD , Vrije Universiteit Amsterdam .
مصطلحات موضوعية: intellectual disability, intelligence, genetics, AUTS2, sNAP25, recontacting
وصف الملف: application/pdf
الإتاحة: https://research.vu.nl/en/publications/97405bad-a1e4-45c9-8f08-3531468bc998Test
https://research.vu.nl/ws/files/58752601/cover.pdfTest
https://research.vu.nl/ws/files/58752603/title%20page.pdfTest
https://research.vu.nl/ws/files/58752605/abstract%20dutch.pdfTest
https://research.vu.nl/ws/files/58752607/abstract%20english.pdfTest
https://research.vu.nl/ws/files/58752609/table%20of%20contents.pdfTest
https://research.vu.nl/ws/files/58752611/complete%20dissertation.pdfTest -
5دورية أكاديمية
المؤلفون: Bosch, E., Popp, B., Güse, E., Skinner, C., Sluijs, P.J. van der, Maystadt, I., Pinto, Ameet J., Renieri, A., Bruno, L.P., Granata, S., Marcelis, C.L., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., Marco, P. De, Ognibene, M., Jamra, R.A., Platzer, K., Carter, L.B., Kuismin, O., Haeringen, A. van, Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J.A., Rabani, A.M., Mefford, H.C., Pereira, E.M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M.C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P.T., McGinnis, E., Millichap, J., Kamp, J.M. van de, Prijoles, E.J., Dobson, A., Shillington, A., Graham, B.H., Garcia, E.J., Galindo, M.K., Ropers, F.G., Nibbeling, E.A., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M.M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., Stevenson, R.E., Santen, G.W.E., Zweier, M., Campeau, P.M., Severino, M., Reis, A., Accogli, A., Vasileiou, G.
المصدر: Genetics in Medicine, 25, 11, pp. 100950
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/299984/299984.pdfTest; https://repository.ubn.ru.nl/handle/2066/299984Test
الإتاحة: https://doi.org/10.1016/j.gim.2023.100950Test
https://repository.ubn.ru.nl//bitstream/handle/2066/299984/299984.pdfTest
https://repository.ubn.ru.nl/handle/2066/299984Test -
6دورية أكاديمية
المؤلفون: Rossi, A, Snijders Blok, L., Neuser, S., Klöckner, C., Platzer, K., Faivre, L.O., Weigand, H., Dentici, M.L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, Lacey, Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M., Lauridsen, M.F., Murch, O., Irving, R., Lynch, S.A., Mehta, S.G., Carmichael, J., Zonneveld-Huijssoon, E., Vries, B.B. de, Kleefstra, T., Johannesen, K.M., Westphall, I.T., Hughes, S.S., Smithson, S., Evans, J., Dudding-Byth, T., Simon, M., Binsbergen, E. van, Herkert, J.C., Beunders, G., Oppermann, H., Bakal, M., Møller, R.S., Rubboli, G., Bayat, A.
المصدر: Clinical Genetics, 104, 2, pp. 186-197
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
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7دورية أكاديمية
المؤلفون: Rossi, Alessandra, Blok, Lot Snijders, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Neuser, Sonja, Murch, Oliver, Irving, R, Lynch, SA, Mehta, SG, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, KM, Westphall, IT, Klöckner, Chiara, Hughes, SS, Smithson, S, Evans, J, Dudding-Byth, Tracy, Simon, M, van Binsbergen, E, Herkert, JC, Beunders, G, Oppermann, H, Bakal, M, Platzer, Konrad, Møller, RS, Rubboli, G, Bayat, A, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello
المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health
مصطلحات موضوعية: autism, cupped ears, epilepsy, neurodevelopmental disorder, POU3F3
العلاقة: Clinical Genetics Vol. 104, Issue 2, p. 186-197; http://hdl.handle.net/1959.13/1490087Test; uon:52838
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8دورية أكاديمية
المؤلفون: Diets, I.J., van der Donk, R., Baltrunaite, K., Waanders, E., Reijnders, M.R.F., Dingemans, A.J.M., Pfundt, R., Vulto-van Silfhout, A.T., Wiel, L., Gilissen, C., Thevenon, J., Perrin, L., Afenjar, A., Nava, C., Keren, B., Bartz, S., Peri, B., Beunders, G., Verbeek, N., van Gassen, K., Thiffault, I., Cadieux-Dion, M., Huerta-Saenz, L., Wagner, M., Konstantopoulou, V., Vodopiutz, J., Griese, M., Boel, A., Callewaert, B., Brunner, H.G., Kleefstra, T., Hoogerbrugge, N., de Vries, B.B.A., Hwa, V., Dauber, A., Hehir-Kwa, J.Y., Kuiper, R.P., Jongmans, M.C.J.
المصدر: Am. J. Hum. Genet. 104, 758-766 (2019)
مصطلحات موضوعية: Kdm3b, Cancer Predisposition, Developmental Delay, Facial Recognition, Intellectual Disability, Leukemia, Lymphoma, Short Stature
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30929739; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55790Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.023Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55790Test -
9دورية أكاديمية
المؤلفون: Koolen, D.A. (David), Pfundt, R. (Rolph), Linda, K. (Katrin), Beunders, G. (Gea), Veenstra-Knol, H.E. (Hermine), Conta, E.H. (Essie H.), Fortuna, A.M. (Ana Maria), Gillessen-Kaesbach, G. (Gabriele), Dugan, S. (Sarah), Halbach, S. (Sara), Abdul-Rahman, O.A. (Omar), Winesett, H.M. (Heather M), Chung, W.K. (Wendy K), Dalton, M. (Marguerite), Dimova, P.S. (Petia S), Mattina, T. (Teresa), Prescott, K. (Katrina), Zhang, H.Z. (Hui Z), Saal, H.M., Hehir-Kwa, J. (Jayne), Willemsen, M.H. (Marjolein), Ockeloen, C. (Charlotte), Jongmans, M.C.J. (Marjolijn), Aa, N. (Nathalie) van der, Failla, P. (P.), Barone, C. (Concetta), Avola, E. (Emanuela), Brooks, A.S. (Alice), Kant, S.G. (Sarina), Gerkes, E.H. (Erica H), Firth, H.V., Unap, K. (Katrin), Bird, L.M. (Lynne), Masser-Frye, D. (Diane), Friedman, J.R. (Jennifer R), Sokunbi, M.A. (Modupe A), Dixit, A. (Abhijit), Splitt, M. (M.), Kukolich, M.K. (Mary K), McGaughran, J., Coe, B.P. (Bradley P), Flórez, J. (Jess), Nadif Kasri, N. (Nael), Brunner, H.G., Thompson, E.M. (Elizabeth M), Gecz, J. (Jozef), Romano, C. (Corrado), Eichler, E.E. (Evan), Vries, B.B.A. (Bert) de
المصدر: European Journal of Human Genetics vol. 24 no. 5, pp. 652-659
العلاقة: http://repub.eur.nl/pub/86135Test; urn:hdl:1765/86135
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10دورية أكاديمية
المؤلفون: Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L.M., Rosenfeld, J.A., Talkowski, M.E., Simonic, I., Lionel, A.C., Vergult, S., Pyatt, R.E., van de Kamp, J.M., Nieuwint, A.W.M., Weiss, M.M., Rizzu, P., Verwer, L.E.N.I., van Spaendonk, R.M.L., Shen, Y.P., Wu, B.L., Yu, T.T., Yu, Y.G., Chiang, C., Gusella, J.F., Lindgren, A.M., Morton, C.C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S.M., Greenhalgh, L., Maye, U., Neill, N.J., Abbott, K.M., Sell, S., Ladda, R., Farber, D.M., Bader, P.I., Cushing, T., Drautz, J.M., Konczal, L., Nash, P., de Los Reyes, E., Carter, M.T., Hopkins, E., Marshall, C.R., Osborne, L.R., Gripp, K.W., Thrush, D.L., Hashimoto, S, Gastier-Foster, J.M., Astbury, C., Ylstra, B., Meijers-Heijboer, E.J., Posthuma, D., Menten, B, Mortier, G., Scherer, S.W., Eichler, E.E., Girirajan, S., Katsanis, N., Groffen, A.J.A., Sistermans, E.A.
المصدر: Beunders , G , Voorhoeve , E , Golzio , C , Pardo , L M , Rosenfeld , J A , Talkowski , M E , Simonic , I , Lionel , A C , Vergult , S , Pyatt , R E , van de Kamp , J M , Nieuwint , A W M , Weiss , M M , Rizzu , P , Verwer , L E N I , van Spaendonk , R M L , Shen , Y P , Wu , B L , Yu , T T , Yu , Y ....
الإتاحة: https://doi.org/10.1016/j.ajhg.2012.12.011Test
https://research.vu.nl/en/publications/3493c27c-20cf-490c-93b0-95d806279c39Test
https://hdl.handle.net/1871.1/3493c27c-20cf-490c-93b0-95d806279c39Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567268Test/
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