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1Academic Journal
المؤلفون: Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H.J., Drechsler, M., Yigit, G., Smorag, L., Hallak, B.A., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Abou Jamra, R., Al-Maawali, A., Wieczorek, D.
مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine
وصف الملف: application/pdf; other
Relation: http://edoc.mdc-berlin.de/23007/1/23007oa.pdf; http://edoc.mdc-berlin.de/23007/7/23007suppl.zip; Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain. Averdunk, L. and Al-Thihli, K. and Surowy, H. and Lüdecke, H.J. and Drechsler, M. and Yigit, G. and Smorag, L. and Hallak, B.A. and Li, Y. and Altmüller, J. and Guthoff, T. and Wallot, M. and Nürnberg, P. and Wollnik, B. and Abou Jamra, R. and Al-Maawali, A. and Wieczorek, D. Clinical Genetics 103 (4): 484-491. April 2023
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2Academic Journal
المؤلفون: Reijnders, MRF, Seibt, A, Brugger, M, Lamers, IJC, Ott, T, Klaas, O, Horvath, J, Rose, AMS, Craghill, IM, Brunet, T, Graf, E, Mayerhanser, K, Hellebrekers, D, Pauck, D, Neuen-Jacob, E, Rodenburg, RJT, Wieczorek, D, Klee, D, Mayatepek, E, Driessen, G, Bindermann, R, Averdunk, L, Lohmeier, K, Sinnema, M, Stegmann, APA, Roepman, R, Poulter, JA, Distelmaier, F
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/198140/8/De%20novo%20missense%20variants%20in%20RRAGC%20lead%20to%20a%20fatal.pdf; Reijnders, MRF, Seibt, A, Brugger, M et al. (25 more authors) (2023) De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genetics in Medicine, 25 (7). 100838. ISSN 1098-3600
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3Electronic Resource
المؤلفون: Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Kloeckner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, McDonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, Bryant, LM
مصطلحات الفهرس: Journal Article
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4Electronic Resource
المؤلفون: Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Toutain, A, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Klockner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, Mcdonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, Bryant, LM
مصطلحات الفهرس: Journal Article
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5Academic Journal
المؤلفون: Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, DGM, Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Di Bonaventura, C., Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., Leuzzi, V.
المصدر: Brain, vol. 145, no. 1, pp. 208-223
مصطلحات موضوعية: Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Myoclonus, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/34382076; info:eu-repo/semantics/altIdentifier/eissn/1460-2156; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_49C7D80FE3EC1; https://serval.unil.ch/notice/serval:BIB_49C7D80FE3EC; https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdf
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6Academic Journal
المؤلفون: Hsieh, T.C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K.W., Pantel, J.T., Danyel, M., Mensah, M.A., Horn, D., Rosnev, S., Fleischer, N., Bonini, G., Hustinx, A., Schmid, A., Knaus, A., Javanmardi, B., Klinkhammer, H., Lesmann, H., Sivalingam, S., Kamphans, T., Meiswinkel, W., Ebstein, F., Kruger, E., Küry, S., Bézieau, S., Schmidt, A., Peters, S., Engels, H., Mangold, E., Kreiß, M., Cremer, K., Perne, C., Betz, R.C., Bender, T., Grundmann-Hauser, K., Haack, T.B., Wagner, M., Brunet, T., Bentzen, H.B., Averdunk, L., Coetzer, K.C., Lyon, G.J., Spielmann, M., Schaaf, C.P., Mundlos, S., Nöthen, M.M., Krawitz, P.M.
المصدر: Nat. Genet. 54, 349-357 (2022)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35145301; info:eu-repo/semantics/altIdentifier/wos/WOS:000753785800005; info:eu-repo/semantics/altIdentifier/isbn/1061-4036; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64310; urn:isbn:1061-4036; urn:issn:1061-4036; urn:issn:1546-1718
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7Academic Journal
المؤلفون: Averdunk, L, Sticht, H, Surowy, H, Lüdecke, HJ, Koch-Hogrebe, M, Alsaif, HS, Kahrizi, K, Alzaidan, H, Alawam, BS, Tohary, M, Kraus, C, Endele, S, Wadman, E, Kaplan, JD, Efthymiou, S, Najmabadi, H, Reis, A, Alkuraya, FS, Wieczorek, D
المصدر: Journal of Molecular Medicine (2021) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10136448/1/Averdunk2021_Article_TheRecurrentMissenseMutationPA.pdf; https://discovery.ucl.ac.uk/id/eprint/10136448/
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8Academic Journal
المؤلفون: Averdunk, L., Ruckbeil, M.V., Zarbock, A., Martin, L., Marx, G., Jalaie, H., Jacobs, M.J., Stoppe, C., Gombert, A.
المصدر: Averdunk , L , Ruckbeil , M V , Zarbock , A , Martin , L , Marx , G , Jalaie , H , Jacobs , M J , Stoppe , C & Gombert , A 2020 , ' SLPI - a Biomarker of Acute Kidney Injury after Open and Endovascular Thoracoabdominal Aortic Aneurysm (TAAA) Repair ' , Scientific Reports , vol. 10 , no. 1 , 3453 . https://doi.org/10.1038/s41598-020-60482-9
مصطلحات موضوعية: acute-renal-failure, defense, disease, elimination, leukocyte protease inhibitor, proteinase-inhibitor
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9Electronic Resource
المؤلفون: Averdunk, L., Huetzen, M.A., Moreno-Andrés, D., Kalb, R., McKee, Shane, Hsieh, T.C., Neveling, K., Hoischen, A., Felbert, V. von, Distelmaier, Felix
المصدر: Genetics in Medicine; 1098-3600; 7; 25; 100836; ~Genetics in Medicine~~~~~1098-3600~7~25~~100836
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10Electronic Resource
المؤلفون: Reijnders, M.R.F., Seibt, A., Brugger, M., Lamers, I.J.C., Ott, T., Klaas, O., Horváth, J., Rose, A.M.S., Craghill, I.M., Brunet, T., Graf, E., Mayerhanser, K., Hellebrekers, D., Pauck, D., Neuen-Jacob, E., Rodenburg, R.J.T., Wieczorek, D., Klee, D., Mayatepek, E., Driessen, G., Bindermann, R., Averdunk, L., Lohmeier, K., Sinnema, M., Stegmann, A.P.A., Roepman, R., Poulter, J.A., Distelmaier, F.
المصدر: Genetics in Medicine; 100838; 1098-3600; 7; 25; 100838; ~Genetics in Medicine~100838~~~~1098-3600~7~25~~100838
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11Academic Journal
المؤلفون: Pross, C, Geissler, A, Averdunk, L, Busse, R
المصدر: European Journal of Public Health ; volume 26, issue suppl_1 ; ISSN 1101-1262 1464-360X
مصطلحات موضوعية: Public Health, Environmental and Occupational Health
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12Academic Journal
المؤلفون: Stoppe, C., Rex, Steffen, Goetzenich, A., Kaemer, S., Emontzpohl, Ch., Soppert, J., Averdunk, L., Sun, Y., Rossaint, R., Lue, H., Huang, C., Song, Y., Pantouris, G., Lolis, E., Leng, L., Schulten, W., Bucala, C., Weber, C., Bernhagen, J.
وصف الملف: 526150 bytes; application/pdf
Relation: Antioxidants & Redox Signaling vol:23 issue:11 pages:865-894; https://lirias.kuleuven.be/handle/123456789/512214; https://lirias.kuleuven.be/bitstream/123456789/512214/1//2015+Rex+Antioxidants+%26+Redox+Signaling.pdf