المؤلفون: Nikolaus, M, Rausch, P, Rostasy, K, Bertolini, A, Wickstrom, R, Johannsen, J, Denecke, J, Breu, M, Schimmel, M, Diepold, K, Haeusler, M, Quade, A, Berger, A, Rosewich, H, Steen, C, von Au, K, Dreesmann, M, Finke, C, Bartels, F, Kaindl, AM, Schuelke, M, Knierim, E

المصدر: Neurology(R) neuroimmunology & neuroinflammation. 10(3)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:155120399Test

المؤلفون: Schramm V., Denecke J., Kim S., Wittig S.

المصدر: International Journal of Rotating Machinery, Vol 10, Iss 5, Pp 365-371 (2004)

مصطلحات موضوعية: Engineering (General). Civil engineering (General), TA1-2040

وصف الملف: electronic resource

العلاقة: http://www.hindawi.net/access/get.aspx?journal=ijrm&volume=10&pii=S1023621X04000375Test; https://doaj.org/toc/1023-621XTest

الوصول الحر: https://doaj.org/article/8fa16d5640bb40c3bae0afaff36cbcb5Test

المؤلفون: Denecke, J.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/211896/1/Reply%20to%20Does%20the%20KDEL%20receptor%20cycle%20between%20the%20Golgi%20and%20the%20ER.pdfTest; Denecke, J. orcid.org/0000-0002-2275-8045 (2024) Reply to: Does the KDEL receptor cycle between the Golgi and the ER? Nature Communications, 15. 2454. ISSN 2041-1723

الإتاحة: https://doi.org/10.1038/s41467-024-45850-7Test
https://eprints.whiterose.ac.uk/211896Test/
https://eprints.whiterose.ac.uk/211896/1/Reply%20to%20Does%20the%20KDEL%20receptor%20cycle%20between%20the%20Golgi%20and%20the%20ER.pdfTest
https://www.nature.com/articles/s41467-024-45850-7Test

المؤلفون: Zheng, L. K., Rubinski, A., Denecke, J., Luan, Y., Smith, R., Strandberg, O., Stomrud, E., Ossenkoppele, R., Svaldi, D. O., Higgins, I. A., Shcherbinin, S., Pontecorvo, M. J., Hansson, O., Franzmeier, Nicolai, 1989, Ewers, M.

المصدر: Annals of Neurology. 95(2):274-287

مصطلحات موضوعية: Neurosciences, Neurovetenskaper

الوصول الحر: https://gup.ub.gu.se/publication/331326Test

المؤلفون: Alvim, JC, Bolt, RM, An, J, Kamisugi, Y, Cuming, A, Silva-Alvim, FAL, Concha, JO, daSilva, LLP, Hu, M, Hirsz, D, Denecke, J

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/197262/3/The%20KHDEL%20receptor%20does%20not%20recycle%20but%20instead%20acts%20as%20a%20Golgi-gatekeeper.pdfTest; Alvim, JC, Bolt, RM, An, J et al. (8 more authors) (2023) The K/HDEL receptor does not recycle but instead acts as a Golgi-gatekeeper. Nature Communications, 14. 1612. ISSN 2041-1723

الإتاحة: https://eprints.whiterose.ac.uk/197262Test/
https://eprints.whiterose.ac.uk/197262/3/The%20KHDEL%20receptor%20does%20not%20recycle%20but%20instead%20acts%20as%20a%20Golgi-gatekeeper.pdfTest

المؤلفون: Alves, C.A.P.F., Sherbini, O., D’Arco, F., Steel, D., Kurian, M.A., Radio, F.C., Ferrero, G.B., Carli, D., Tartaglia, M., Balci, T.B., Powell-Hamilton, N.N., Schrier Vergano, S.A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E.R., Littlejohn, R.O., Lessel, D., Lüttgen, S., Kentros, C., Anyane-Yeboa, K., Catarino, C.B., Mercimek-Andrews, S., Denecke, J., Lyons, M.J., Klopstock, T., Bhoj, E.J., Bryant, L., Vanderver, A.

مصطلحات موضوعية: info:eu-repo/classification/ddc

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1748265Test; https://mediatum.ub.tum.de/doc/1748265/document.pdfTest

الإتاحة: https://doi.org/10.3174/ajnr.a7555Test
https://mediatum.ub.tum.de/1748265Test
https://mediatum.ub.tum.de/doc/1748265/document.pdfTest

المؤلفون: Alves, CAPF, Sherbini, O, D'Arco, F, Steel, D, Kurian, MA, Radio, FC, Ferrero, GB, Carli, D, Tartaglia, M, Balci, TB, Powell-Hamilton, NN, Schrier Vergano, SA, Reutter, H, Hoefele, J, Günthner, R, Roeder, ER, Littlejohn, RO, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, CB, Mercimek-Andrews, S, Denecke, J, Lyons, MJ, Klopstock, T, Bhoj, EJ, Bryant, L, Vanderver, A

المصدر: American Journal of Neuroradiology , 43 (7) pp. 1048-1053. (2022)

مصطلحات موضوعية: Brain, Brain Neoplasms, Child, Germ Cells, Humans, Male, Malformations of Cortical Development, Neurodevelopmental Disorders, Retrospective Studies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10153679/1/AJNR-22-00175.R1_Proof_hi.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10153679Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10153679/1/AJNR-22-00175.R1_Proof_hi.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10153679Test/

المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test

الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test

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: Mannucci, I., Dang, N.D.P., Huber, H., Murry, J.B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P.J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L.A., Braathen, G.J., Busk, O.L., Chenbhanich, J., Denecke, J., Escobar, L.F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C.A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U.W., Brenman, L.M., Martinez-Agosto, J.A., Might, M., Miller, D.T., Minks, K.Q., Moghaddam, B., Nava, C., Nelson, S.F., Parant, J.M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S.F., Schuurs-Hoeijmakers, J., Shieh, P.B., Stegmann, A.P.A., Yeo, Nan Cher, Kreienkamp, Hans-Jurgen, Lessel, Davor

المصدر: Mannucci , I , Dang , N D P , Huber , H , Murry , J B , Abramson , J , Althoff , T , Banka , S , Baynam , G , Bearden , D , Beleza-Meireles , A , Benke , P J , Berland , S , Bierhals , T , Bilan , F , Bindoff , L A , Braathen , G J , Busk , O L , Chenbhanich , J , Denecke , J , Escobar , L F , Estes , C , Fleischer , J , Groepper , D ....

مصطلحات موضوعية: RNA HELICASE, INTELLECTUAL DISABILITY, MEDICAL GENETICS, AMERICAN-COLLEGE, MUTATIONS, AUTISM, IDENTIFICATION, GUIDELINES, STANDARDS, REVEALS

الإتاحة: https://doi.org/10.1186/s13073-021-00900-3Test
https://cris.maastrichtuniversity.nl/en/publications/c1c6e7ce-7f56-4e3c-b4c5-63defe44c7f9Test