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

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145879815

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10181019/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10181019/

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

Relation: http://hdl.handle.net/21.11116/0000-000A-1046-5; http://hdl.handle.net/21.11116/0000-000A-94E3-E; http://hdl.handle.net/21.11116/0000-000A-94E4-D; http://hdl.handle.net/21.11116/0000-000A-94E5-C

الاتاحة: http://hdl.handle.net/21.11116/0000-000A-1046-5
http://hdl.handle.net/21.11116/0000-000A-94E3-E
http://hdl.handle.net/21.11116/0000-000A-94E4-D
http://hdl.handle.net/21.11116/0000-000A-94E5-C

المؤلفون: Bosch E., Popp B., Güse E., Skinner C., van der Sluijs P. J., Maystadt I., Pinto A. M., Renieri A., Bruno L. P., 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 R. A., Platzer K., Carter L. B., Kuismin O., van Haeringen A., 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., van de Kamp J. M., Prijoles E. J., Dobson A., Shillington A., Graham B. H., Garcia E. J., Galindo M. K., Ropers F. G., Nibbeling E. A. R., 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.

المساهمون: Bosch, E, Popp, B, Güse, E, Skinner, C, van der Sluijs, P, Maystadt, I, Pinto, A, Renieri, A, Bruno, L, 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, R, Platzer, K, Carter, L, Kuismin, O, van Haeringen, A, Maroofian, R, Valenzuela, I, Cuscó, I, Martinez-Agosto, J, Rabani, A, Mefford, H, Pereira, E, Close, C, Anyane-Yeboa, K, Wagner, M, Hannibal, M, Zacher, P, Thiffault, I, Beunders, G, Umair, M, Bhola, P, Mcginnis, E, Millichap, J, van de Kamp, J, Prijoles, E, Dobson, A, Shillington, A, Graham, B, Garcia, E, Galindo, M, Ropers, F, Nibbeling, E, Hubbard, G, Karimov, C, Goj, G, Bend, R, Rath, J, Morrow, M, Millan, F, Salpietro, V, Torella, A, Nigro, V, Kurki, M, Stevenson, R, Santen, G, Zweier, M, Campeau, P, Severino, M, Reis, A, Accogli, A, Vasileiou, G

مصطلحات موضوعية: BAF, BAFopathy, Coffin-Siris syndrome, NDD, SMARCC2

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37551667; info:eu-repo/semantics/altIdentifier/wos/WOS:001109386900001; volume:25; issue:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10281/502619; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85173555062

الاتاحة: https://hdl.handle.net/10281/502619
https://doi.org/10.1016/j.gim.2023.100950

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

Relation: https://research.vu.nl/en/publications/97405bad-a1e4-45c9-8f08-3531468bc998

الاتاحة: https://research.vu.nl/en/publications/97405bad-a1e4-45c9-8f08-3531468bc998
https://research.vu.nl/ws/files/58752601/cover.pdf
https://research.vu.nl/ws/files/58752603/title%20page.pdf
https://research.vu.nl/ws/files/58752605/abstract%20dutch.pdf
https://research.vu.nl/ws/files/58752607/abstract%20english.pdf
https://research.vu.nl/ws/files/58752609/table%20of%20contents.pdf
https://research.vu.nl/ws/files/58752611/complete%20dissertation.pdf

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 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/2066/299984/299984.pdf
https://repository.ubn.ru.nl/handle/2066/299984

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; 186; 197; 0009-9163; 2; 104; ~Clinical Genetics~186~197~~~0009-9163~2~104~~

URL: https://repository.ubn.ru.nl/handle/2066/297008

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

Relation: 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=55790; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55790
https://doi.org/10.1016/j.ajhg.2019.02.023

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

Relation: Clinical Genetics Vol. 104, Issue 2, p. 186-197; http://hdl.handle.net/1959.13/1490087; uon:52838

الاتاحة: http://hdl.handle.net/1959.13/1490087

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

Relation: http://repub.eur.nl/pub/86135; urn:hdl:1765/86135

الاتاحة: http://repub.eur.nl/pub/86135
https://doi.org/10.1038/ejhg.2015.178

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 ....

الاتاحة: https://research.vu.nl/en/publications/3493c27c-20cf-490c-93b0-95d806279c39
https://doi.org/10.1016/j.ajhg.2012.12.011
https://hdl.handle.net/1871.1/3493c27c-20cf-490c-93b0-95d806279c39
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567268/

المؤلفون: Rodríguez-Palmero, A., Boerrigter, M.M., Gómez-Andrés, D., Aldinger, K.A., Marcos-Alcalde, Í., Popp, B., Everman, D.B., Lovgren, A.K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A.M., Bjerregaard, V.A., Bruel, A.L., Challman, T.D., Cogné, B., Coubes, C., Man, S.A. de, Denommé-Pichon, A.S., Dye, T.J., Elmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T.B., Haldeman-Englert, C.R., Haukanes, B.I., Hoyer, J., Hurst, A.C.E., Isidor, B., Soller, M.J., Kushary, S., Kvarnung, M., Landau, Y.E., Leppig, K.A., Lindstrand, A., Kleinendorst, L., Mackenzie, A., Mandrile, G., Mendelsohn, B.A., Moghadasi, S., Morton, J.E., Moutton, S., Müller, A.J., O'Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M.J., Ruivenkamp, C.A.L., Sarrazin, E., Savatt, J.M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J.T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F.T., Bon, B. van, Burgt, I. van der, Laar, I. van de, Drie, E. van, Haelst, M.M. van, Ravenswaaij-Arts, C.M.A. van, Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C.E., Vries, B.B. de, Dobyns, W.B., Reiter, S.F., Gómez-Puertas, P., Pujol, A., Tümer, Z.

المصدر: Genetics in Medicine; 888; 899; 1098-3600; 5; 23; ~Genetics in Medicine~888~899~~~1098-3600~5~23~~

المؤلفون: Kerstjens-Frederikse, W. S., van der Hout, A. H., Vos, Y. J., Dijkhuizen, T., Verheij, J. B. G. M., van Langen, I. M., Sikkema-Raddatz, B., de Groot, M. J., Drok, H. H. J., Kinds, R., Beunders, G., Zonneveld-Huijssoon, E., Herkert, J. C., Vansenne, F., Wassink-Ruiter, J. S. Klein, Gerkes, E., van der Velde, K. J., Swertz, M. A., Sinke, R. J., van Diemen, C. C.

المساهمون: Health Psychology Research (HPR), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: European Journal of Human Genetics, 27, 508-509. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::f27c70625ff7bedd7da931f1e1ffd1e4
https://research.rug.nl/en/publications/1c8e3ac5-fcbe-4d26-9237-aa131fecb2fc

المؤلفون: Beunders, G.

المساهمون: Meijers-Heijboer, Hanne, Posthuma, Danielle, Sistermans, Erik, Clinical genetics, Meijers-Heijboer, E.J., Posthuma, D, Sistermans, E.A.

مصطلحات موضوعية: recontacting, intellectual disability, sNAP25, genetics, intelligence, AUTS2

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1c74bb18ffc830fbfc2605fdae7540d7
https://research.vumc.nl/en/publications/15cbe379-acd8-4437-be5f-2a9f875719ef

المؤلفون: Koolen, D.A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H.E., Conta, J.H., Fortuna, A.M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O.A., Winesett, H.M., Chung, W.K., Dalton, M., Dimova, P.S., Mattina, T., Prescott, K., Zhang, H.Z., Saal, H.M., Hehir-Kwa, J.Y., Willemsen, M.H., Ockeloen, C.W., Jongmans, M.C., Aa, N. van der, Failla, P., Barone, C., Avola, E., Brooks, A.S., Kant, S.G., Gerkes, E.H., Firth, H.V., Ounap, K., Bird, L.M., Masser-Frye, D., Friedman, J.R., Sokunbi, M.A., Dixit, A., Splitt, M., Kukolich, M.K., McGaughran, J., Coe, B.P., Florez, J., Kasri, N.N., Brunner, H.G., Thompson, E.M., Gecz, J., Romano, C., Eichler, E.E., Vries, B.B.A. de, DDD Study

المساهمون: Clinical Genetics, Klinische Genetica, MUMC+: DA Klinische Genetica (5), Genetica & Celbiologie, RS: FHML non-thematic output, RS: GROW - School for Oncology and Reproduction, RS: GROW - R4 - Reproductive and Perinatal Medicine, DDD Study

المصدر: European Journal of Human Genetics, 24(5), 652-659
European Journal of Human Genetics, 24(5), 652-659. Nature Publishing Group
European Journal of Human Genetics, 24, 652-9
European Journal of Human Genetics, 24(5), 652. Nature Publishing Group
European journal of human genetics : EJHG, vol 24, iss 5
European Journal of Human Genetics, 24, 5, pp. 652-9
European journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Congenital, Epilepsy, Intellectual disability, MAPT, 2.1 Biological and endogenous factors, Koolen-de Vries syndrome, KANSL1, phenotype, Genetics(clinical), Copy-number variation, Aetiology, Non-U.S. Gov't, Child, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, COMMON INVERSION, DEVELOPMENTAL DELAY, Research Support, Non-U.S. Gov't, Nuclear Proteins, Single Nucleotide, Microdeletion syndrome, Middle Aged, Hypotonia, Chemistry, DROSOPHILA, Phenotype, Female, Abnormalities, medicine.symptom, Chromosome Deletion, Haploinsufficiency, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, Adolescent, Koolen De Vries syndrome, INVERSION POLYMORPHISM, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Copy number analysis, COPY-NUMBER VARIATION, Biology, Research Support, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Intellectual Disability, Journal Article, medicine, Humans, Abnormalities, Multiple, Polymorphism, DDD Study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, MUTATIONS, Pair 17, DISABILITY, Neurosciences, medicine.disease, Brain Disorders, DELINEATION, 030104 developmental biology, Congenital Structural Anomalies, Human medicine, Chromosomes, Human, Pair 17

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f827d463b917f0431b68269c99908da3
http://hdl.handle.net/1887/112975

المؤلفون: Beunders, G., Kamp, J. van der, Vasudevan, P., Morton, J., Smets, K., Kleefstra, T., Munnik, S.A. de, Schuurs-Hoeijmakers, J.H.M., Ceulemans, B., Zollino, M., Hoffjan, S., Wieczorek, S., So, J., Mercer, L., Walker, T., Velsher, L., Parker, M.J., Magee, A.C., Elffers, B., Kooy, R.F., Yntema, H.G., Meijers-Heijboer, E.J., Sistermans, E.A.

المصدر: Journal of Medical Genetics, 53, 8, pp. 523-32

مصطلحات موضوعية: Radboudumc 12: Sensory disorders 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/2066/167695; https://doi.org/10.1136/jmedgenet-2015-103601

الاتاحة: http://hdl.handle.net/2066/167695
https://doi.org/10.1136/jmedgenet-2015-103601

المؤلفون: Jansen C., Jelles B., Gouw A.A., Beunders G., van Spaendonk R. M., van de Kamp J. M., Lemstra A. W., Rozemuller A. J., PARCHI, PIERO, CAPELLARI, SABINA

المساهمون: Jansen C., Parchi P., Jelles B., Gouw AA., Beunders G., van Spaendonk R.M., van de Kamp J.M., Lemstra A.W., Capellari S., Rozemuller A.J.

مصطلحات موضوعية: PHENOTYPE, FATAL FAMILIAL INSOMNIA, TAU, PRION, DEMENTIA

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/20874730; info:eu-repo/semantics/altIdentifier/wos/WOS:000292694300008; volume:37; firstpage:549; lastpage:553; numberofpages:5; journal:NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY; http://hdl.handle.net/11585/123143; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79960230036

الاتاحة: http://hdl.handle.net/11585/123143
https://doi.org/10.111110.1111/j.1365-2990.2010.01126.x

المؤلفون: Beunders, G., de Munnik, S.A., van der Aa, N.E., Ceulemans, B., Voorhoeve, E., Groffen, A.J.A., Nillesen, W.M., Meijers-Heijboer, E.J., Kooy, F.R., Yntema, H.G., Sistermans, E.A.

المصدر: Beunders , G , de Munnik , S A , van der Aa , N E , Ceulemans , B , Voorhoeve , E , Groffen , A J A , Nillesen , W M , Meijers-Heijboer , E J , Kooy , F R , Yntema , H G & Sistermans , E A 2015 , ' Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome ' , European Journal of Human Genetics , vol. 23 , no. 6 , pp. 803-807 . https://doi.org/10.1038/ejhg.2014.173

الاتاحة: https://research.vumc.nl/en/publications/e331e6e3-544e-40d6-a271-e6f96e940ece
https://doi.org/10.1038/ejhg.2014.173

المؤلفون: Rizzi, T.S., Beunders, G., Rizzu, P., Sistermans, E.A., Twisk, J.W.R., van Mechelen, W., Deijen, J.B., Meijers-Heijboer, H., Verhage, M., Heutink, P., Posthuma, D.

المصدر: Rizzi , T S , Beunders , G , Rizzu , P , Sistermans , E A , Twisk , J W R , van Mechelen , W , Deijen , J B , Meijers-Heijboer , H , Verhage , M , Heutink , P & Posthuma , D 2012 , ' Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25 ' , Genes, Brain and Behavior , vol. 11 , no. 7 , pp. 767-771 . https://doi.org/10.1111/j.1601-183X.2012.00819.x

الاتاحة: https://research.vumc.nl/en/publications/5156e057-7313-4244-be71-7bbad2dfdab3
https://doi.org/10.1111/j.1601-183X.2012.00819.x

المؤلفون: Willemsen, M.H., Beunders, G., Callaghan, M., de Leeuw, N., Nillesen, W.M., Yntema, H.G., van Hagen, J.M., Nieuwint, A.W.M., Morrison, N., Keijzers-Vloet, S.T.M., Hoischen, A., Brunner, H.G., Tolmie, J., Kleefstra, T.

المصدر: Willemsen , M H , Beunders , G , Callaghan , M , de Leeuw , N , Nillesen , W M , Yntema , H G , van Hagen , J M , Nieuwint , A W M , Morrison , N , Keijzers-Vloet , S T M , Hoischen , A , Brunner , H G , Tolmie , J & Kleefstra , T 2011 , ' Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ' , Clinical Genetics , vol. 80 , no. 1 , pp. 31-38 . https://doi.org/10.1111/j.1399-0004.2010.01607.x

الاتاحة: https://research.vumc.nl/en/publications/cfec2d60-d156-4461-ab74-108816c3a038
https://doi.org/10.1111/j.1399-0004.2010.01607.x