المؤلفون: Pauleikhoff, L., Weisschuh, N., Lentzsch, A., Spital, G., Krohne, T. U., Agostini, H., Lange, C.A.K.

المصدر: European Journal of Ophthalmology; Jan2024, Vol. 34 Issue 1, p79-88, 10p

المؤلفون: Souzeau, E, Weisschuh, N, Craig, JE, Pasutto, F, Koch, K-W

العلاقة: pii: genes12030359; Souzeau, E., Weisschuh, N., Craig, J. E., Pasutto, F. & Koch, K. -W. (2021). An Assessment of GUCA1C Variants in Primary Congenital Glaucoma. GENES, 12 (3), https://doi.org/10.3390/genes12030359Test.; http://hdl.handle.net/11343/305938Test

الإتاحة: https://doi.org/10.3390/genes12030359Test
http://hdl.handle.net/11343/305938Test

المؤلفون: Charif, M, Gueguen, N, Ferré, M, Elkarhat, Z, Khiati, S, LeMao, M, Chevrollier, A, Desquiret-Dumas, V, Goudenège, D, Bris, C, Kane, S, Alban, J, Chupin, S, Wetterwald, C, Caporali, L, Tagliavini, F, LaMorgia, C, Carbonelli, M, Jurkute, N, Barakat, A, Gohier, P, Verny, C, Barth, M, Procaccio, V, Bonneau, D, Zanlonghi, X, Meunier, I, Weisschuh, N, Schimpf-Linzenbold, S, Tonagel, F, Kellner, U, Yu-Wai-Man, P, Carelli, V, Wissinger, B, Amati-Bonneau, P, Reynier, P, European ION Group, ., Lenaers, G

المصدر: Brain Communications , 3 (2) , Article fcab063. (2021)

مصطلحات موضوعية: ACO2, Krebs cycle, aconitase 2, mitochondria, optic neuropathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129233Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129233Test/

المؤلفون: Kortüm, F., Kieninger, S., Mazzola, P., Kohl, S., Wissinger, B., Prokisch, H., Stingl, K., Weisschuh, N.

المصدر: Int. J. Mol. Sci. 22:850 (2021)

مصطلحات موضوعية: Rpgr, X-linked, In Vitro Splice Assay, Non-canonical Splice Site Variant, Retinitis Pigmentosa

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33467000; info:eu-repo/semantics/altIdentifier/wos/WOS:000611889200001; info:eu-repo/semantics/altIdentifier/isbn/1422-0067; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085Test; urn:isbn:1422-0067; urn:issn:1422-0067; urn:issn:1661-6596

الإتاحة: https://doi.org/10.3390/ijms22020850Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085Test

المؤلفون: Aung, T, Ozaki, M, Lee, MC, Schlotzer-Schrehardt, U, Thorleifsson, G, Mizoguchi, T, Igo, RP, Haripriya, A, Williams, SE, Astakhov, YS, Orr, AC, Burdon, KP, Nakano, S, Mori, K, Abu-Amero, K, Hauser, M, Li, Z, Prakadeeswari, G, Bailey, JNC, Cherecheanu, AP, Kang, JH, Nelson, S, Hayashi, K, Manabe, S, Kazama, S, Zarnowski, T, Inoue, K, Irkec, M, Coca-Prados, M, Sugiyama, K, Jarvela, I, Schlottmann, P, Lerner, SF, Lamari, H, Nilgun, Y, Bikbov, M, Park, KH, Cha, SC, Yamashiro, K, Zenteno, JC, Jonas, JB, Kumar, RS, Perera, SA, Chan, ASY, Kobakhidze, N, George, R, Vijaya, L, Do, T, Edward, DP, Marcos, LD, Pakravan, M, Moghimi, S, Ideta, R, Bach-Holm, D, Kappelgaard, P, Wirostko, B, Thomas, S, Gaston, D, Bedard, K, Greer, WL, Yang, ZL, Chen, XY, Huang, LL, Sang, JH, Jia, HY, Jia, LY, Qiao, CY, Zhang, H, Liu, XY, Zhao, BW, Wang, YX, Xu, L, Leruez, S, Reynier, P, Chichua, G, Tabagari, S, Uebe, S, Zenkel, M, Berner, D, Mossbock, G, Weisschuh, N, Hoja, U, Welge-Luessen, UC, Mardin, C, Founti, P, Chatzikyriakidou, A, Pappas, T, Anastasopoulos, E, Lambropoulos, A, Ghosh, A, Shetty, R, Porporato, N, Saravanan, V, Venkatesh, R, Shivkumar, C, Kalpana, N, Sarangapani, S, Kanavi, MR, Beni, AN, Yazdani, S, Lashay, A, Naderifar, H, Khatibi, N, Fea, A, Lavia, C, Dallorto, L, Rolle, T, Frezzotti, P, Paoli, D, Salvi, E, Manunta, P, Mori, Y, Miyata, K, Higashide, T, Chihara, E, Ishiko, S, Yoshida, A, Yanagi, M, Kiuchi, Y, Ohashi, T, Sakurai, T, Sugimoto, T, Chuman, H, Aihara, M, Inatani, M, Miyake, M, Gotoh, N, Matsuda, F, Yoshimura, N, Ikeda, Y, Ueno, M, Sotozono, C, Jeoung, JW, Sagong, M, Ahn, J, Cruz-Aguilar, M, Ezzouhairi, SM, Rafei, A, Chong, YF, Ng, XY, Goh, SR, Chen, YM, Yong, VHK, Khan, MI, Olawoye, OO, Ashaye, AO, Ugbede, I, Onakoya, A, Kizor-Akaraiwe, N, Teekhasaenee, C, Suwan, Y, Supakontanasan, W, Okeke, S, Uche, NJ, Asimadu, I, Ayub, H, Akhtar, F, Kosior-Jarecka, E, Lukasik, U, Lischinsky, I, Castro, V, Grossmann, RP, Megevand, GS, Roy, S, Dervan, E, Silke, E, Rao, A, Sahay, P, Fornero, P, Cuello, O, Sivori, D, Zompa, T, Mills, RA, Souzeau, E, Mitchell, P, Wang, JJ, Hewitt, AW, Coote, M, Crowston, JG, Astakhov, SY, Akopov, EL, Emelyanov, A, Vysochinskaya, V, Kazakbaeva, G, Fayzrakhmanov, R, Al-Obeidan, SA, Owaidhah, O, Aljasim, LA, Chowbay, B, Foo, JN, Soh, RQ, Sim, KS, Xie, ZC, Cheong, AWO, Mok, SQ, Soo, HM, Peh, SQ, Heng, KK, Husain, R, Ho, SL, Hillmer, AM, Cheng, CY, Escudero-Dominguez, FA, Gonzalez-Sarmiento, R, Martinon-Torres, F, Salas, A, Pathanapitoon, K, Hansapinyo, L, Wanichwecharugruang, B, Kitnarong, N, Sakuntabhai, A, Nguyn, HX, Nguyn, GTT, Nguyn, TV, Zenz, W, Binder, A, Klobassa, DS, Hibberd, ML, Davila, S, Herms, S, Nothen, MM, Moebus, S, Rautenbach, RM, Ziskind, A, Carmichael, TR, Ramsay, M, Alvarez, L, Garcia, M, Gonzalez-Iglesias, H, Rodriguez-Calvo, PP, Cueto, LFV, Oguz, C, Tamcelik, N, Atalay, E, Batu, B, Aktas, D, Kasim, B, Wilson, MR, Coleman, AL, Liu, YT, Challa, P, Herndon, L, Kuchtey, RW, Kuchtey, J, Curtin, K, Chaya, CJ, Crandall, A, Zangwill, LM, Wong, TY, Nakano, M, Kinoshita, S, den Hollander, AI, Vesti, E, Fingert, JH, Lee, RK, Sit, AJ, Shingleton, BJ, Wang, NL, Cusi, D, Qamar, R, Kraft, P, Pericak-Vance, MA, Raychaudhuri, S, Heegaard, S, Kivela, T, Reis, A, Kruse, FE, Weinreb, RN, Pasquale, LR, Haines, JL, Thorsteinsdottir, U, Jonasson, F, Allingham, RR, Milea, D, Ritch, R, Kubota, T, Tashiro, K, Vithana, EN, Micheal, S, Topouzis, F, Craig, JE, Dubina, M, Sundaresan, P, Stefansson, K, Wiggs, JL, Pasutto, F, Khor, CC

المصدر: Nature genetics. 49(7):993

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:136091594Test

المؤلفون: Buena-Atienza, E, Ruther, K, Baumann, B, Bergholz, R, Birch, D, De Baere, E, Dollfus, H, Greally, MT, Gustavsson, P, Hamel, CP, Heckenlively, JR, Leroy, BP, Plomp, AS, Pott, JWR, Rose, K, Rosenberg, T, Stark, Z, Verheij, JBGM, Weleber, R, Zobor, D, Weisschuh, N, Kohl, S, Wissinger, B

المصدر: Scientific reports. 6:28253

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:133801749Test

المؤلفون: Bruijn, S.E. de, Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J.A., Kremer, H., Whelan, L., Plomp, A.S., Berger, W., Farrar, G.J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R.J., Weisschuh, N., Weener, M.E., Sharon, D., Pennings, R.J.E., Haer-Wigman, L., Hoyng, C.B., Nelen, M.R., Vissers, L.E.L.M., Born, L.I. van den, Gilissen, C.F.H.A., Cremers, F.P.M., Hoischen, A., Neveling, K., Roosing, S.

المصدر: Genetics in Medicine, 25, 3

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research Human Genetics, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders Otorhinolaryngology, Radboudumc 4: lnfectious Diseases and Global Health Human Genetics, Radboudumc 4: lnfectious Diseases and Global Health Internal Medicine, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/291280/291280.pdfTest; https://repository.ubn.ru.nl/handle/2066/291280Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.11.013Test
https://repository.ubn.ru.nl//bitstream/handle/2066/291280/291280.pdfTest
https://repository.ubn.ru.nl/handle/2066/291280Test

المؤلفون: Pauleikhoff, L., Weisschuh, N., Lentzsch, A., Spital, G., Krohne, T. U., Agostini, H., Lange, C.A.K.

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: European Journal of Ophthalmology ; volume 34, issue 1, page 79-88 ; ISSN 1120-6721 1724-6016

مصطلحات موضوعية: Ophthalmology, General Medicine

الإتاحة: https://doi.org/10.1177/11206721231178147Test

المؤلفون: Bauwens, M, Garanto, A, Sangermano, R, Naessens, S, Weisschuh, N, De Zaeytijd, J, Khan, M, Sadler, F, Balikova, I, Van Cauwenbergh, C, Rosseel, T, Bauwens, J, De Leeneer, K, De Jaegere, S, Van Laethem, T, De Vries, M, Carss, K, Arno, G, Fakin, A, Webster, AR, de Ravel de l'Argentière, TJL, Sznajer, Y, Vuylsteke, M, Kohl, S, Wissinger, B, Cherry, T, Collin, RWJ, Cremers, FPM, Leroy, BP, De Baere, E

المصدر: Genetics in Medicine (2019) (In press).

مصطلحات موضوعية: ABCA4-associated disease, AON, deep-intronic, missing heritability, noncoding

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10073733/1/Bauwens_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10073733Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10073733/1/Bauwens_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10073733Test/

المؤلفون: Pauleikhoff, L., Weisschuh, N., Lentzsch, A., Spital, G., Krohne, T. U., Agostini, H., Lange, C.A.K.

مصطلحات موضوعية: Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2961eea63fe8bd81ac3d0b011cd2408cTest