المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504Test

المؤلفون: Rodriguez-Palmero, A, Boerrigter, MM, Gomez-Andres, D, Aldinger, KA, Marcos-Alcalde, I, Popp, B, Everman, DB, Lovgren, AK, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, AM, Bjerregaard, VA, Bruel, AL, Challman, TD, Cogne, B, Coubes, C, de Man, SA, Denomme-Pichon, AS, Dye, TJ, Elmslie, F, Feuk, L, Garcia-Minaur, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, TB, Haldeman-Englert, CR, Haukanes, BI, Hoyer, J, Hurst, ACE, Isidor, B, Soller, MJ, Kushary, S, Kvarnung, M, Landau, YE, Leppig, KA, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, BA, Moghadasi, S, Morton, JE, Moutton, S, Muuller, AJ, O'Leary, M, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, MJ, Ruivenkamp, CAL, Sarrazin, E, Savatt, JM, Schluter, A, Schonewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, JT, Shohat, M, Spranger, S, Thiese, H, Mau-Them, FT, van Bon, B, van de Burgt, I, van de Laar, IMBH, van Drie, E, van Haelst, MM, van Ravenswaaij-Arts, CM, Verdura, E, Vitobello, A, Waldmuller, S, Whiting, S, Zweier, C, Prada, CE, de Vries, BBA, Dobyns, WB, Reiter, SF, Gomez-Puertas, P, Pujol, A, Tumer, Z

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145879815Test

المؤلفون: Bosch, E, Popp, B, Güse, E, Skinner, C, van der Sluijs, PJ, Maystadt, I, Pinto, AM, Renieri, A, Bruno, LP, Granata, S, Marcelis, C, Baysal, Ö, Hartwich, D, Holthöfer, L, Isidor, B, Cogne, B, Wieczorek, D, Capra, V, Scala, M, De Marco, P, Ognibene, M, Jamra, RA, Platzer, K, Carter, LB, Kuismin, O, van Haeringen, A, Maroofian, R, Valenzuela, I, Cuscó, I, Martinez-Agosto, JA, Rabani, AM, Mefford, HC, Pereira, EM, Close, C, Anyane-Yeboa, K, Wagner, M, Hannibal, MC, Zacher, P, Thiffault, I, Beunders, G, Umair, M, Bhola, PT, McGinnis, E, Millichap, J, van de Kamp, JM, Prijoles, EJ, Dobson, A, Shillington, A, Graham, BH, Garcia, EJ, Galindo, MK, Ropers, FG, Nibbeling, EAR, Hubbard, G, Karimov, C, Goj, G, Bend, R, Rath, J, Morrow, MM, Millan, F, Salpietro, V, Torella, A, Nigro, V, Kurki, M, Stevenson, RE, Santen, GWE, Zweier, M, Campeau, PM, Severino, M, Reis, A, Accogli, A, Vasileiou, G

المصدر: Genetics in Medicine , 25 (11) , Article 100950. (2023) (In press).

مصطلحات موضوعية: BAF, BAFopathy, Coffin-Siris syndrome, NDD, Nicolaides-Baraitser syndrome, SMARCC2, neurodevelopmental disorder

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181019Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181019Test/

المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, VA, Leppig, KA, Lundgren, J, McDonald, MT, McLaughlin, HM, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(7):796-796

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:146229962Test

المؤلفون: Schönauer, R., Sierks, D., Boerrigter, M.M., Jawaid, T., Caroff, L., Audrezet, M.P., Friedrich, A., Shaw, M., Degenhardt, J., Forberger, M., Fallois, J. de, Bläker, H., Bergmann, C., Gödiker, J., Schindler, P., Schlevogt, B., Müller, R.U., Berg, T., Patterson, I., Griffiths, W.J., Sayer, J.A., Popp, B., Torres, V.E., Hogan, M.C., Somlo, S., Watnick, T.J., Nevens, F., Besse, W., Cornec-Le Gall, E., Harris, P.C., Drenth, J.P.H., Halbritter, J.

المصدر: Gastroenterology, 166, 5, pp. 902-914

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 11: Renal disorders Gastroenterology

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/305734/305734.pdfTest; https://repository.ubn.ru.nl/handle/2066/305734Test

الإتاحة: https://doi.org/10.1053/j.gastro.2023.12.007Test
https://repository.ubn.ru.nl//bitstream/handle/2066/305734/305734.pdfTest
https://repository.ubn.ru.nl/handle/2066/305734Test

المؤلفون: Ebrahimi-Fakhari, D, Alecu, JE, Brechmann, B, Ziegler, M, Eberhardt, K, Jumo, H, D'Amore, A, Habibzadeh, P, Faghihi, MA, De Bleecker, JL, Vuillaumier-Barrot, S, Auvin, S, Santorelli, FM, Neuser, S, Popp, B, Yang, E, Barrett, L, Davies, AK, Saffari, A, Hirst, J, Sahin, M

المصدر: essn: 2632-1297 ; nlmid: 101755125

مصطلحات موضوعية: hereditary spastic paraplegia, adaptor protein complex 4, functional assay, high-throughput imaging, biomarker

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/332224Test

الإتاحة: https://doi.org/10.17863/CAM.79670Test
https://www.repository.cam.ac.uk/handle/1810/332224Test

المؤلفون: Xu, X, Hassan Awadallah, A, Dumais, S, Omar, F, Popp, B, Rounthwaite, R, Jahanbakhsh, Farnaz

المساهمون: Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory

المصدر: ACM

وصف الملف: application/octet-stream

العلاقة: The Web Conference 2020 - Proceedings of the World Wide Web Conference, WWW 2020; https://hdl.handle.net/1721.1/133835.2Test

الإتاحة: https://hdl.handle.net/1721.1/133835.2Test

المؤلفون: Rice G. I., Park S., Gavazzi F., Adang L. A., Ayuk L. A., Van Eyck L., Seabra L., Barrea C., Battini R., Belot A., Berg S., Billette de Villemeur T., Bley A. E., Blumkin L., Boespflug-Tanguy O., Briggs T. A., Brimble E., Dale R. C., Darin N., Debray F. -G., De Giorgis V., Denecke J., Doummar D., Drake af Hagelsrum G., Eleftheriou D., Estienne M., Fazzi E., Feillet F., Galli J., Hartog N., Harvengt J., Heron B., Heron D., Kelly D. A., Lev D., Levrat V., Livingston J. H., Marti I., Mignot C., Mochel F., Nougues M. -C., Oppermann I., Perez-Duenas B., Popp B., Rodero M. P., Rodriguez D., Saletti V., Sharpe C., Tonduti D., Vadlamani G., Van Haren K., Tomas Vila M., Vogt J., Wassmer E., Wiedemann A., Wilson C. J., Zerem A., Zweier C., Zuberi S. M., Orcesi S., Vanderver A. L., Hur S., Crow Y. J.

المساهمون: Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F. -G., De Giorgis, V., Denecke, J., Doummar, D., Drake af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. -C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J.

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31898846; info:eu-repo/semantics/altIdentifier/wos/WOS:000506940000001; volume:41; issue:4; firstpage:837; lastpage:849; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1071295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078038174

الإتاحة: https://doi.org/10.1002/humu.23975Test
http://hdl.handle.net/11568/1071295Test

المؤلفون: Doherty, S. C., Maas, A. E., Steinberg, Deborah K., Popp, B. N., Close, H. G.

المصدر: VIMS Articles

مصطلحات موضوعية: Biological Sciences Peer-Reviewed Articles, Marine Biology

وصف الملف: application/pdf

العلاقة: https://scholarworks.wm.edu/vimsarticles/2188Test; https://scholarworks.wm.edu/context/vimsarticles/article/3191/viewcontent/lno.11793.pdfTest; https://scholarworks.wm.edu/context/vimsarticles/article/3191/filename/0/type/additional/viewcontent/lno11793_sup_0001_supinfo.pdfTest

الإتاحة: https://doi.org/10.1002/lno.11793Test
https://scholarworks.wm.edu/vimsarticles/2188Test
https://scholarworks.wm.edu/context/vimsarticles/article/3191/viewcontent/lno.11793.pdfTest
https://scholarworks.wm.edu/context/vimsarticles/article/3191/filename/0/type/additional/viewcontent/lno11793_sup_0001_supinfo.pdfTest

المؤلفون: Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, Foulds, N, Hunt, D, Kuechler, A, Beygo, J, Stobe, P, Bouman, A, Palomares-Bralo, M, Santos-Simarro, F, Garcia-Minaur, S, Pacio-Miguez, M, Popp, B, Vasileiou, G, Hebebrand, M, Reis, A, Schuhmann, S, Krumbiegel, M, Brown, NJ, Sparber, P, Melikyan, L, Bessonova, L, Cherevatova, T, Sharkov, A, Shcherbakova, N, Dabir, T, Kini, U, Schwaibold, EMC, Haack, TB, Bertoli, M, Hoffjan, S, Falb, R, Shinawi, M, Sticht, H, Zweier, C

العلاقة: pii: 6367979; Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., Foulds, N., Hunt, D., Kuechler, A., Beygo, J., Stobe, P., Bouman, A., Palomares-Bralo, M., Santos-Simarro, F., Garcia-Minaur, S. ,. Zweier, C. (2021). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. HUMAN MOLECULAR GENETICS, 31 (3), pp.440-454. https://doi.org/10.1093/hmg/ddab265Test.; http://hdl.handle.net/11343/301516Test

الإتاحة: https://doi.org/10.1093/hmg/ddab265Test
http://hdl.handle.net/11343/301516Test