First release of Apertif imaging survey data

Autor: Adams, Elizabeth A. K., Adebahr, B., de Blok, W. J. G., Denes, H., Hess, K. M., van der Hulst, J. M., Kutkin, A., Lucero, D. M., Morganti, R., Moss, V. A., Oosterloo, T. A., Orru, E., Schulz, R., van Amesfoort, A. S., Berger, A., Boersma, O. M., Bouwhuis, M., Brink, R. van den, van Cappellen, W. A., Connor, L., Coolen, A. H. W. M., Damstra, S., van Diepen, G. N. J., Dijkema, T. J., Ebbendorf, N., Grange, Y. G., de Goei, R., Gunst, A. W., Holties, H. A., Hut, B., Ivashina, M. V., Jozsa, G. I. G., Loose, G. M., van Leeuwen, J., Maan, Y., Mancini, M., Mika, A., Mulder, H., Norden, M. J., Offringa, A. R., Oostrum, L. C., Pastor-Marazuela, I., Pisano, D. J., Ponomareva, A. A., Romein, J. W., Ruiter, M, Schoenmakers, A. P., van der Schuur, D., Sluman, J. J., Smits, R., Stuurwold, K. J. C, Verstappen, J., Vilchez, N. P. E, Vohl, D., Wierenga, K. J., Wijnholds, S. J., Woestenburg, E. E. M., Zanting, A. W., Ziemke, J.

Publikováno v: A&A 667, A38 (2022)

(Abridged) Apertif is a phased-array feed system for WSRT, providing forty instantaneous beams over 300 MHz of bandwidth. A dedicated survey program started on 1 July 2019, with the last observations taken on 28 February 2022. We describe the release

Externí odkaz: http://arxiv.org/abs/2208.05348

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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Autor: Zweier, M., Begemann, A., Mcwalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., Carneiro, M., Chen, J., Cooper, G. M., Finnila, C. R., Sacoto, M. J. Guillen, Henderson, A., Hueffmeier, U., Joset, P., Kerr, B., Lesca, G., Leszinski, G. S., Mcdermott, J. H., Meltzer, M. R., Monaghan, K. G., Mostafavi, R., Ounap, K., Plecko, B., Powis, Z., Purcarin, G., Reimand, T., Riedhammer, K. M., Schreiber, J. M., Sirsi, D., Wierenga, K. J., Wojcik, M. H., Papuc, S. M., Steindl, K., Sticht, H., Anita Rauch

Publikováno v: Deciphering Developmental Disorders (DDD) Study 2019, ' Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-018-0331-z
Web of Science
Eur J Hum Genet

CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0326f688aa9da100d1da43c2778301
https://www.research.manchester.ac.uk/portal/en/publications/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizures(25ed1309-95f9-4ade-81dd-3ae801258bcc).html

Identifying homozygous sickle cell disease when neonatal screening is not available: a clinic-based observational study.

Autor: Hambleton, I. R., Wierenga, K. J. J.

Publikováno v: Journal of Medical Screening; Dec2004, Vol. 11 Issue 4, p175-179, 5p, 2 Charts, 3 Graphs

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