Zobrazeno 1 - 10 of 223 pro vyhledávání: '"Feenstra I"'
1
Akademický článek
Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
Autor: Van de Kerkhof NW, Feenstra I, van der Heijden FM,  De Leeuw N, Pfundt R, Stöber G, Egger JI, Verhoeven WM
Publikováno v: Neuropsychiatric Disease and Treatment, Vol 2012, Iss default, Pp 295-300 (2012)
Noortje WA Van de Kerkhof,1 Ilse Feenstra,2 Jos IM Egger,1,3,4 Nicole de Leeuw,2 Rolph Pfundt,2 Gerald Stöber,5 Frank MMA van der Heijden,1 Willem MA Verhoeven1,61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, V
Externí odkaz: https://doaj.org/article/d281e501daf24a47a322ed6059308933
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2
Akademický článek
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study
Autor: Sistermans, E.A., Henneman, L., Polstra, A., Voorhoeve, E., Zelderen-Bohla, S.L., Boon, E.M.J., Lombardi, M.P.R., Louwerens-Zintel, C., Smit, M., van Maarle, M.C., Tan-Sindhunata, M.B., van der Meij, K., Meij, H., Bax, C., Pajkrt, E., Linskens, I.H., Martin, L., Gitsels-van der Wal, J.T., Galjaard, R.J.H., Van Opstal, D., Srebniak, M.I., Jehee, F.M. Sarquis, Hollink, I.H.I.M., Sleutels, F., de Valk, W., Deelen, W.H., Joosten, A.M.S., Diderich, K.E.M., Redeker, M.E., Go, A.T.J.I., Knapen, M.F.C.M., Galjaard, S., Prinsen, A.K.E., Braat, A.P.G., Macville, M.V.E., Stevens, S.J.C., van der Wijngaard, A., Houben, L.H., van Esch-Lennarts, M.A.A., Hamers, L., Jetten, A.G.P., Ghesquiere, S.A.I., Koning, B. de, ZamaniEsteki, M., Heesterbeek, C.J., de Die-Smulders, C.E.M., Brunner, H., Pieters, M.J., Coumans, A.B.C., Smeets, D.F.C.M., Faas, B.H.W., Westra, D., Weiss, M.M., Derks-Prinsen, I., Feenstra, I., van Rij, M., Sikkel, E., Hoffer, M.J.V., Hollander, N.S. den, Verweij, E.J.T., Haak, M.C., Suijkerbuijk, R.F., Sikkema-Raddatz, B., van Langen, I.M., Bouman, K., Duin, L.K., Schuring-Blom, G.H., Lichtenbelt, K.D., Bekker, M.N., van der Ven, A.J.E.M., van Vliet-Lachotzki, E., Pot, J., van ‘t Padje, S., Bakker, I.M.C., Bradley, E.J., Heesterbeek, Catharina J., Tjan-Heijnen, Vivianne C.G., Heimovaara, Joosje H., Lenaerts, Liesbeth, Lok, Christianne, Vriens, Ingeborg J.H., Van Opstal, Diane, Boon, Elles M.J., Sie, Daoud, de Die-Smulders, Christine E.M., Amant, Frédéric, Macville, Merryn V.E.
Publikováno v: In The Lancet Regional Health - Europe October 2024 45
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4
Akademický článek
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5
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing
Autor: Schuurman, L.V., Sistermans, E.A., Opstal, D. van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, K., Munnik, S. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A.T.J.I., Hoffer, M.J.V., Joosten, M., Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M.F.C.M., Macville, M.V.E., Galjaard, R.J.H., Dutch NIPT Consortium
Publikováno v: American journal of human genetics, 109(6), 1140-1152. Cell Press
American Journal of Human Genetics, 109(6), 1140-1152. CELL PRESS
American Journal of Human Genetics, 109, 6, pp. 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. Cell Press
Dutch NIPT Consortium 2022, ' Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing : Follow-up results of the TRIDENT-2 study ', American journal of human genetics, vol. 109, no. 6, pp. 1140-1152 . https://doi.org/10.1016/j.ajhg.2022.04.018
American Journal of Human Genetics, 109(7). Cell Press
American Journal of Human Genetics, 109, 1140-1152
Contains fulltext : 251979.pdf (Publisher’s version ) (Open Access) In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or sc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f185a21074eaaeaf5f9da3fa138556
https://doi.org/10.1016/j.ajhg.2022.04.018
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6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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7
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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9
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
Autor: Smits, J.J., Oostrik, J., Beynon, A.J., Kant, S.G., Gans, P.A.M.D., Rotteveel, L.J.C., Wassink-Ruiter, J.S.K., Free, R.H., Maas, S.M., Kamp, J. van de, Merkus, P., Koole, W., Feenstra, I., Admiraal, R.J.C., Lanting, C.P., Schraders, M., Yntema, H.G., Pennings, R.J.E., Kremer, H., DOOFNL Consortium
Publikováno v: Human Genetics, 138(1), 61-72
Human Genetics, 138(1), 61-72. Springer Verlag
Human Genetics, 138, 61-72
Smits, J J, Oostrik, J, Beynon, A J, Kant, S G, de Koning Gans, P A M, Rotteveel, L J C, Klein Wassink-Ruiter, J S, Free, R H, Maas, S M, van de Kamp, J, Merkus, P, Koole, W, Feenstra, I, Admiraal, R J C, Lanting, C P, Schraders, M, Yntema, H G, Pennings, R J E, Kremer, H & DOOFNL Consortium 2019, ' De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment ', Human Genetics, vol. 138, no. 1, pp. 61-72 . https://doi.org/10.1007/s00439-018-1965-1
HUMAN GENETICS, 138(1), 61-72. SPRINGER
Human genetics, 138(1), 61-72. Springer Verlag
Human Genetics
Human Genetics, 138, 1, pp. 61-72
ATP2B2 encodes the PMCA2 Ca2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca2+ from the stereocilia to the endolymph. Several mouse models have been described for this gene; mice heteroz
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa2a9e19ff4836d8f13fe533df77d22
https://doi.org/10.1007/s00439-018-1965-1
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10
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant (Human Genetics, (2021), 10.1007/s00439-021-02336-6)
Autor: Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, van Dooren, M. F., Kant, S. G., de Gier, H. H. W., Hoefsloot, E. H., van der Schroeff, M. P., Rotteveel, L. J. C., Ropers, F. G., Widdershoven, J. C. C., Hof, J. R., Vanhoutte, E. K., Feenstra, I., Kremer, H., Lanting, C. P., Pennings, R. J. E., Yntema, H. G., Free, R. H., Klein Wassink-Ruiter, J. S., Stokroos, R. J., Smit, A. L., van den Boogaard, M. J., Ebbens, F. A., Maas, S. M., Plomp, A., Goderie, T. P. M., Merkus, P., van de Kamp, J., Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Publikováno v: Human genetics. Springer Verlag
In the original article published, the affiliation of the 3rd author Cornelis P. Lanting is published incorrectly. The correct affiliation is given below: 1. Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nij
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::26586226c73e85a0fa3972b5b93860e4
https://pure.amc.nl/en/publications/correction-to(6225aed7-d819-49d4-bd24-cacfd46e52fd).html
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