المؤلفون: McTiernan, N., Tranebjærg, L., Bjørheim, A.S., Hogue, J.S., Wilson, W.G., Schmidt, B., Boerrigter, M.M., Nybo, M.L., Smeland, M.F., Tümer, Z., Arnesen, T.

المصدر: Human Genetics, 141, pp. 1355-1369

مصطلحات موضوعية: NON-RU research, Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Onderzoek niet-RU

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/288011/288011.pdfTest; https://repository.ubn.ru.nl/handle/2066/288011Test

الإتاحة: https://doi.org/10.1007/s00439-021-02427-4Test
https://repository.ubn.ru.nl//bitstream/handle/2066/288011/288011.pdfTest
https://repository.ubn.ru.nl/handle/2066/288011Test

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, 23, 5, pp. 888-899

مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/245031Test

الإتاحة: https://doi.org/10.1038/s41436-020-01075-9Test
https://repository.ubn.ru.nl/handle/2066/245031Test

المؤلفون: Mulder, P.A., Huisman, S., Landlust, A.M., Moss, Jo, Piening, S., Hennekam, R.C., van Balkom, I.D.C., Bader, I., Bisgaard, A.-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., van Essen, A., Fitzpatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Lessel, D., Michot, C., Noon, S.E., Oliver, C., Parenti, I., Pie-Juste, J., Puisac, B., Ramos, F.J., Redeker, E., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., de Vries, I.M., Wenger, T.L., Wierzba, J.

العلاقة: http://epubs.surrey.ac.uk/853565Test/; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85054556117&doi=10.1111%2fjcpp.12979&partnerID=40&md5=5c621bf8d628690e2d492f66e109a588Test; Mulder, P.A., Huisman, S., Landlust, A.M., Moss, Jo, Piening, S., Hennekam, R.C., van Balkom, I.D.C., Bader, I., Bisgaard, A.-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., van Essen, A., Fitzpatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Lessel, D., Michot, C., Noon, S.E., Oliver, C., Parenti, I., Pie-Juste, J., Puisac, B., Ramos, F.J., Redeker, E., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., de Vries, I.M., Wenger, T.L. and Wierzba, J. (2019) Development, behaviour and autism in individuals with SMC1A variants Journal of Child Psychology and Psychiatry and Allied Disciplines, 60 (3). pp. 305-313.

الإتاحة: https://doi.org/10.1111/jcpp.12979Test

المؤلفون: Kline, A.D., Moss, Joanna, Selicorni, A., Bisgaard, A.-M., Deardorff, M.A., Gillett, P.M., Ishman, S.L., Kerr, L.M., Levin, A.V., Mulder, P.A., Ramos, F.J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C., Hennekam, R.C.

العلاقة: http://epubs.surrey.ac.uk/853571Test/; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85049684939&doi=10.1038%2fs41576-018-0031-0&partnerID=40&md5=4ce5890b6098cbd7a48f9c6b0ff60f85Test; Kline, A.D., Moss, Joanna, Selicorni, A., Bisgaard, A.-M., Deardorff, M.A., Gillett, P.M., Ishman, S.L., Kerr, L.M., Levin, A.V., Mulder, P.A., Ramos, F.J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C. and Hennekam, R.C. (2018) Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement Nature Reviews Genetics, 19 (10). pp. 649-666.

الإتاحة: https://doi.org/10.1038/s41576-018-0031-0Test

المؤلفون: Bertelsen, B., Nazaryan-Petersen, L., Sun, W., Mehrjouy, M.M., Xie, G., Chen, W., Hjermind, L.E., Taschner, P.E.M., Tuemer, Z.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

العلاقة: A germline chromothripsis event stably segregating in 11 individuals through three generations. Bertelsen, B. and Nazaryan-Petersen, L. and Sun, W. and Mehrjouy, M.M. and Xie, G. and Chen, W. and Hjermind, L.E. and Taschner, P.E.M. and Tuemer, Z. Genetics in Medicine 18 (5): 494-500. May 2016

الإتاحة: https://doi.org/10.1038/gim.2015.112Test
http://edoc.mdc-berlin.de/15022Test/
https://edoc.mdc-berlin.de/15022Test/

المؤلفون: Bertelsen, B., Melchior, L., Jensen, L.R., Groth, C., Nazaryan, L., Debes, N.M., Skov, L., Xie, G., Sun, W., Brondum-Nielsen, K., Kuss, A.W., Chen, W., Tuemer, Z.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Technology Platforms

العلاقة: A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD. Bertelsen, B. and Melchior, L. and Jensen, L.R. and Groth, C. and Nazaryan, L. and Debes, N.M. and Skov, L. and Xie, G. and Sun, W. and Brondum-Nielsen, K. and Kuss, A.W. and Chen, W. and Tuemer, Z. Psychiatry Research 225 (3): 268-275. 28 February 2015

الإتاحة: https://doi.org/10.1016/j.psychres.2014.12.028Test
http://edoc.mdc-berlin.de/14571Test/
https://edoc.mdc-berlin.de/14571Test/

المؤلفون: McNair, J. Brender, McNair, P., Dennis, L., Tümer, Z.

المصدر: The Mereon Matrix ; page 347-516

الإتاحة: https://doi.org/10.1016/b978-0-12-404613-9.00013-7Test
https://api.elsevier.com/content/article/PII:B9780124046139000137?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780124046139000137?httpAccept=text/plainTest

المؤلفون: Dennis, L., Kauffman, L.H., McNair, J. Brender, McNair, P., Reid, J.S., Tümer, Z., Woolf, N.J.

المصدر: The Mereon Matrix ; page xvii

الإتاحة: https://doi.org/10.1016/b978-0-12-404613-9.00028-9Test
https://api.elsevier.com/content/article/PII:B9780124046139000289?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780124046139000289?httpAccept=text/plainTest

المؤلفون: Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K., Petersen, M. B.

المصدر: http://www.scopus.com/inward/record.url?eid=2-s2.0-80054887678&partnerID=40&md5=e06184531084e04e4d3e873b91f9bd94Test.

مصطلحات موضوعية: Array CGH, Behavioral anomalies, Chromosome 10, Deletion, Duplication, Non-acrocentric satellited chromosomes, Phychomotor delay, RNA 28S, acrocentric chromosome, adolescent, article, case report, centromere, chromosome 10q, chromosome arm, chromosome banding pattern, chromosome deletion, chromosome duplication, chromosome rearrangement, chromosome satellite, chromosome translocation, clinical evaluation, clinical feature, comparative genomic hybridization, developmental disorder, female, fluorescence in situ hybridization, follow up, human, intellectual impairment

العلاقة: http://hdl.handle.net/11615/32891Test

الإتاحة: https://doi.org/10.1002/ajmg.a.34259Test
http://hdl.handle.net/11615/32891Test

المؤلفون: Erdogan, F., Larsen, L.A., Zhang, L., Tuemer, Z., Tommerup, N., Chen, W., Jacobsen, J.R., Schubert, M., Jurkatis, J., Tzschach, A., Ropers, H.H., Ullmann, R.

مصطلحات موضوعية: Technology Platforms

العلاقة: High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. Erdogan, F. and Larsen, L.A. and Zhang, L. and Tuemer, Z. and Tommerup, N. and Chen, W. and Jacobsen, J.R. and Schubert, M. and Jurkatis, J. and Tzschach, A. and Ropers, H.H. and Ullmann, R. Journal of Medical Genetics 45 (11): 704-709. November 2008

الإتاحة: https://doi.org/10.1136/jmg.2008.058776Test
http://edoc.mdc-berlin.de/10339Test/
https://edoc.mdc-berlin.de/10339Test/