Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Littink, K.W."'
Autor:
Littink, Karin W., Stappers, Patricia T.Y., Riemslag, Frans C.C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P.M., Collin, Rob W.J., van den Born, L. Ingeborgh
Publikováno v:
Genes; Mar2018, Vol. 9 Issue 3, p145, 2p
Autor:
Estrada-Cuzcano, A., Koenekoop, R.K., Senechal, A., Baere, E.B. De, Ravel, T. de, Banfi, S., Kohl, S., Ayuso, C., Sharon, D., Hoyng, C.B., Hamel, C.P., Leroy, B.P., Ziviello, C., Lopez, I., Bazinet, A., Wissinger, B., Sliesoraityte, I., Avila-Fernandez, A., Littink, K.W., Vingolo, E.M., Signorini, S., Banin, E., Mizrahi-Meissonnier, L., Zrenner, E., Kellner, U., Collin, R.W.J., Hollander, A.I. den, Cremers, F.P.M., Klevering, B.J., Paun, C.C., Pijl, B.J., Siemiatkowska, A.M.
Publikováno v:
Archives of Ophthalmology, 130, 11, pp. 1425-32
Archives of Ophthalmology, 130, 1425-32
Archives of Ophthalmology, 130, 1425-32
OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dd85f9111503b2a683822ba3321415c
https://hdl.handle.net/2066/110354
https://hdl.handle.net/2066/110354
Publikováno v:
Advances in Experimental Medicine and Biology, 723, 345-51
Advances in Experimental Medicine and Biology, 723, pp. 345-51
Advances in Experimental Medicine and Biology, 723, pp. 345-51
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9862d6480095271ea7c684baf76229dc
http://hdl.handle.net/2066/109901
http://hdl.handle.net/2066/109901
Autor:
Littink, K.W.
Contains fulltext : 82950.pdf (Publisher’s version ) (Open Access) Radboud Universiteit Nijmegen, 03 november 2010 Promotor : Cremers, F.P.M. Co-promotores : Born, L.I. van den, Hollander, A.I. den 239 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9e6b30b560c55112eb9838d63d6ef33d
https://hdl.handle.net/2066/82950
https://hdl.handle.net/2066/82950
Autor:
Tan, Wendy D.1 (AUTHOR) jodom@hsc.wvu.edu, Odom, J. Vernon1 (AUTHOR), Leys, Monique1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Nov2023, Vol. 12 Issue 22, p6960. 8p.
Autor:
Sather III, Richard1 (AUTHOR) sathe130@umn.edu, Ihinger, Jacie1 (AUTHOR), Simmons, Michael1 (AUTHOR), Khundkar, Tahsin1 (AUTHOR), Lobo, Glenn P.1 (AUTHOR), Montezuma, Sandra R.1 (AUTHOR) smontezu@umn.edu
Publikováno v:
International Journal of Molecular Sciences. Jul2023, Vol. 24 Issue 13, p10895. 13p.
Autor:
Zufiaurre-Seijo, Maddalen1 (AUTHOR) maddalen.zufiaurre@vhir.org, García-Arumí, José1 (AUTHOR), Duarri, Anna1 (AUTHOR) anna.duarri@vhir.org
Publikováno v:
International Journal of Molecular Sciences. Jul2023, Vol. 24 Issue 13, p10670. 22p.
Akademický článek
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Autor:
Frederick, Courtney E.1 (AUTHOR), Zenisek, David1 (AUTHOR) david.zenisek@yale.edu
Publikováno v:
International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5090. 18p.
Autor:
Placidi, Giorgio1,2 (AUTHOR), Maltese, Paolo Enrico3 (AUTHOR), Savastano, Maria Cristina1,2 (AUTHOR) mariacristina.savastano@unicatt.it, D'Agostino, Elena1 (AUTHOR), Cestrone, Valentina1 (AUTHOR), Bertelli, Matteo3,4,5 (AUTHOR), Chiurazzi, Pietro6,7 (AUTHOR), Maceroni, Martina1,2 (AUTHOR), Minnella, Angelo Maria1,2 (AUTHOR), Ziccardi, Lucia8 (AUTHOR), Parisi, Vincenzo8 (AUTHOR), Rizzo, Stanislao1,2,9 (AUTHOR), Falsini, Benedetto1,2 (AUTHOR)
Publikováno v:
Diagnostics (2075-4418). Mar2023, Vol. 13 Issue 5, p850. 12p.