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Development, behaviour and autism in individuals with SMC1A variants

Autor: Mulder, P.A., Huisman, S., Landlust, A.M., Moss, J., Bader, I., Balkom, I.D.C. van, Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hennekam, R.C., 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, J., Piening, S., Puisac, B., Ramos, F.J., Redeker, E., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Vries, I.M., Wenger, T.L., Wierzba, J., SMC1A Consortium

Publikováno v: SMC1A Consortium 2019, ' Development, behaviour and autism in individuals with SMC1A variants ', Journal of Child Psychology and Psychiatry and Allied Disciplines, vol. 60, no. 3, pp. 305-313 . https://doi.org/10.1111/jcpp.12979
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 3, pp. 305-313
Journal of Child Psychology and Psychiatry, 60(3), 305-313. Wiley
Journal of Child Psychology and Psychiatry, 60(3), 305-313. Wiley-Blackwell Publishing Ltd
Journal of Child Psychology and Psychiatry, 60(3), 305-313. WILEY
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60(3), 305-313. Wiley-Blackwell
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 305-313
Journal of child psychology and psychiatry, and allied disciplines, 60(3), 305-313. Wiley-Blackwell
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60(3), 305. Wiley-Blackwell

Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41be5a1901aac8685a934d8c694a75b2
https://doi.org/10.1111/jcpp.12979

Prevalence of hypertension in adults with intellectual disability in the Netherlands.

Autor: Van De Louw, J.¹ (AUTHOR), Vorstenbosch, R.² (AUTHOR), Vinck, L.³ (AUTHOR), Penning, C.⁴ (AUTHOR), Evenhuis, H.⁴ (AUTHOR)

Publikováno v: Journal of Intellectual Disability Research. Jan2009, Vol. 53 Issue 1, p78-84. 7p. 3 Charts.

Characterization of multiple transcripts and isoforms derived from the mouse protein tyrosine phosphatase gene Ptprr

Autor: Chirivi, R. G., Dilaver, G., Vorstenbosch, R., Wanschers, B., Schepens, J., Croes, H., Jack Fransen, Hendriks, W.

Publikováno v: Genes to Cells, 9, 10, pp. 919-33
ResearcherID
Genes to Cells, 9, 919-33

Contains fulltext : 58886.pdf (Publisher’s version ) (Closed access) The use of alternative splice sites, promoters and translation start sites considerably adds to the complexity of organisms. Four mouse cDNAs (PTPBR7, PTP-SL, PTPPBSgamma+ and PTP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::994040e35c19f573c8008d5320af7587
https://hdl.handle.net/2066/58886