المؤلفون: Stessman, HAF, Willemsen, MH, Fenckova, M, Penn, O, Hoischen, A, Xiong, B, Wang, TY, Hoekzema, K, Vives, L, Voge, I, Brunner, HG, van der Burgt, I, Ockeloen, CW, Schuurs-Hoeijmakers, JH, Wassink-Ruiter, JSK, Stumpel, C, Stevens, SJC, Vles, HS, Marcelis, CM, van Bokhoven, H, Cantagrel, V, Colleaux, L, Nicouleau, M, Lyonnet, S, Bernier, RA, Gerdts, J, Coe, BP, Romano, C, Alberti, A, Grillo, L, Scuderi, C, Nordenskjold, M, Kvarnung, M, Guo, H, Xia, K, Piton, A, Gerard, B, Genevieve, D, Delobel, B, Lehalle, D, Perrin, L, Prieur, F, Thevenon, J, Gecz, J, Shaw, M, Pfundt, R, Keren, B, Jacquette, A, Schenck, A, Eichler, EE, Kleefstra, Tz

المصدر: American journal of human genetics. 98(3):541-552

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133190407

المؤلفون: Polla, D. L.^{Aff1, Aff2}, Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A. T. Vulto-van, Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S.^{Aff9, Aff10}, Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., Stegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A. P. M.^Aff1

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(4):645-652

المؤلفون: Koster, R., Brandão, R. D.^{Aff1, Aff2}, Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C.^{Aff1, Aff2}, Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J.^{Aff6, Aff7}, Lesnik Oberstein, S. A. J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W. J., Brunner, H. G.^{Aff1, Aff2, Aff5, Aff12, Aff13}, van den Wijngaard, A., van Geel, M.^{Aff1, Aff2}, Blok, M. J.^{Aff1, Aff2}

المصدر: npj Genomic Medicine. 6(1)

المؤلفون: Fergelot, P, Van Belzen, M, Van Gils, J, Afenjar, A, Armour, CM, Arveiler, B, Beets, L, Burglen, L, Busa, T, Collet, M, Deforges, J, de Vries, BBA, Garrido, ED, Dorison, N, Dupont, J, Francannet, C, Garcia-Minaur, S, Vila, EG, Gebre-Medhin, S, Querol, BG, Genevieve, D, Gerard, M, Gervasini, CG, Goldenberg, A, Josifova, D, Lachlan, K, Maas, S, Maranda, B, Moilanen, JS, Nordgren, A, Parent, P, Rankin, J, Reardon, W, Rio, M, Roume, J, Shaw, A, Smigiel, R, Sojo, A, Solomon, B, Stembalska, A, Stumpel, C, Suarez, F, Terhal, P, Thomas, S, Touraine, R, Verloes, A, Vincent-Delorme, C, Wincent, J, Peters, DJM, Bartsch, O, Larizza, L, Lacombe, D, Hennekam, RC

المصدر: American journal of medical genetics. Part A. 170(12):3069-3082

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134613528

المؤلفون: Chaira Serrarens, Maarten Otter, Campforts, B. C. M., Stumpel, C. T. R. M., Jansma, H., Amelsvoort, T. A. M. J., Claudia Vingerhoets

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: MA Med Staf Spec Psychiatrie (9), Psychiatry 3, RS: FPN CN 3, Perception, Psychiatry 1

المصدر: Maastricht University
Journal of Neurodevelopmental Disorders, 14(1):14. Springer Verlag
Biological Psychiatry, 91(9), S152-S152. Elsevier Science

مصطلحات موضوعية: Adult, 7T, Cognitive Neuroscience, Sex Chromosome Disorders of Sex Development, Cortical folding, LANGUAGE, Trisomy, CHILDREN, Cortical surface area, XXX, Pathology and Forensic Medicine, Cortical thickness, GYRUS, SCHIZOPHRENIA, Social functioning, 47,XXX, Humans, Adults, Sex Chromosome Aberrations, RISK, Subcortical volume, Chromosomes, Human, X, Sex Chromosomal Aneuploidy, Brain, Brain Morphology, Magnetic Resonance Imaging, Social cognition, AMYGDALA, SIZE, Pediatrics, Perinatology and Child Health, Female, SEX, Neurology (clinical), MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae7a51a3c54da8f3df7e11462d64a67b
https://doi.org/10.1186/s11689-022-09425-1

المؤلفون: Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Siu, M., Cytrynbaum, C., Hoang, N., Walker, S., Scherer, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B. B. A., Stumpel, C. T. R. M., Stevens, S. J. C., Harssel, J., Bosch, D. G. M., Gassen, K. L. I., Binsbergen, E., Geus, C. M., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Lilian Bomme Ousager, Martin Jakob Larsen, Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Wilson, W. G., Schmidt, B., Meyn, S., Ounap, K., Reinson, K., Pajusalu, S., Ruivenkamp, C., Haeringen, A., Cuperus, R., Vissers, L. E. L. M., Brunner, H. G., Kleefstra, T., Koolen, D. A., Weksberg, R., GeneDx Inc

المصدر: Rots, D, Chater-Diehl, E, Dingemans, A J M, Siu, M, Cytrynbaum, C, Hoang, N, Walker, S, Scherer, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Stumpel, C T R M, Stevens, S J C, van Harssel, J, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Neumeyer, A M, Radley, J A, Phornphutkul, C, Wilson, W G, Schmidt, B, Meyn, S, Ounap, K, Reinson, K, Pajusalu, S, Ruivenkamp, C, van Haeringen, A, Cuperus, R, Vissers, L E L M, Brunner, H G, Kleefstra, T, Koolen, D A, Weksberg, R & Inc, G 2020, ' Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, pp. 34-35 .
University of Southern Denmark

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a2bcbc5487b6c7b63cd6aea418b402ba
https://portal.findresearcher.sdu.dk/da/publications/e3228e28-d4fc-4a07-8480-3fb7a895b3d2

المؤلفون: Slavotinek, A., Searby, C., Al-Gazali, L., Hennekam, R., Schrander-Stumpel, C., Orcana-Losa, M., Pardo-Reoyo, S., Cantani, A., Kumar, D., Capellini, Q., Neri, G., Zackai, E., Biesecker, L.

المصدر: Human Genetics. June 2002 110(6):561-567

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المؤلفون: Takahashi, M., Rapley, E., Biggs, P.J., Lakhani, S.R, Cooke, D., Hansen, J., Blair, E., Hofmann, B., Siebert, R., Turner, G., Evans, D.G., Schrander-Stumpel, C., Beemer, F.A., van Vloten, W.A., Breuning, M.H., van den Ouweland, A., Halley, D., Delpech, B., Cleveland, M., Leigh, I., Chapman, P., Burn, J., Hohl, D., Görög, J.-P., Seal, S., Mangion, J., Warren, W., Bignell, G., Stratton, M.R.

المصدر: Human Genetics. January 2000 106(1):58-65

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