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1دورية أكاديمية
المؤلفون: Husain, R. A., Jiao, X., Hennings, J. C., Giesecke, J., Palsule, G., Beck-Wödl, S., Osmanović, D., Bjørgo, K., Mir, A., Ilyas, M., Abbasi, S. M., Efthymiou, S., Dominik, N., Maroofian, R., Houlden, H., Rankin, J., Pagnamenta, A. T., Nashabat, M., Altwaijri, W., Alfadhel, M., Umair, M., Khouj, E., Reardon, W., El-Hattab, A. W., Mekki, M., Houge, G., Beetz, C., Bauer, P., Putoux, A., Lesca, G., Sanlaville, D., Alkuraya, F. S., Taylor, R. W., Mentzel, H. J., Hübner, C. A., Huppke, P., Hart, R. P., Haack, T. B., Kiledjian, M., Rubio, I.
مصطلحات موضوعية: Ap4A hydrolase, Nudix, basal ganglia, interferon, mRNA cap, muscular hypotonia
العلاقة: Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, et al. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain : a journal of neurology. 2023.; Brain : a journal of neurology; https://hdl.handle.net/11287/623128Test
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2دورية أكاديمية
المؤلفون: Van der Spek, J., Den Hoed, J., Snijders Blok, L., Dingemans, A., Schijven, D., Nellaker, C., Venselaar, H., Astuti, G., Barakat, T., Bebin, E., Beck-Wödl, S., Beunders, G., Brown, N., Brunet, T., Brunner, H., Campeau, P., Čuturilo, G., Gilissen, C., Haack, T., Hüning, I., Husain, R., Kamien, B., Lim, S., Lovrecic, L., Magg, J., Maver, A., Miranda, V., Monteil, D., Ockeloen, C., Pais, L., Plaiasu, V., Raiti, L., Richmond, C., Rieß, A., Schwaibold, E., Simon, M., Spranger, S., Tan, T., Thompson, M., De Vries, B., Wilkins, E., Willemsen, M., Francks, C., Vissers, L., Fisher, S., Kleefstra, T.
المصدر: Genetics in Medicine
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
العلاقة: http://hdl.handle.net/21.11116/0000-000A-1046-5Test; http://hdl.handle.net/21.11116/0000-000A-94E3-ETest; http://hdl.handle.net/21.11116/0000-000A-94E4-DTest; http://hdl.handle.net/21.11116/0000-000A-94E5-CTest
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3دورية أكاديمية
المؤلفون: Husain, R.A., Grimmel, M., Wagner, M., Hennings, J.C., Marx, C., Feichtinger, R.G., Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M.C., Besse, A., Ng, A.C.H., Chiang, D., Bolduc, F., Tafakhori, A., Mane, S., Ghasemi Firouzabadi, S., Huebner, A.K., Buchert, R., Beck-Woedl, S., Müller, A.J., Laugwitz, L., Nägele, T., Wang, Z.Q., Strom, T.M., Sturm, M., Meitinger, T., Klockgether, T., Riess, O., Klopstock, T., Brandl, U., Hübner, C.A., Deschauer, M., Mayr, J.A., Bonnen, P.E., Krägeloh-Mann, I., Wortmann, S.B., Haack, T.B.
المصدر: Am. J. Hum. Genet. 107, 364-373 (2020)
مصطلحات موضوعية: Developmental Delay, Encephalopathy, Exome Sequencing, Hereditary Spastic Paraplegia, Hpdl, Leigh-like Syndrome, Mitochondrial Metabolism, Movement Disorder
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32707086; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.015Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885Test -
4دورية أكاديمية
المؤلفون: Grünert, S. C., Schumann, A., Freisinger, P., Rosenbaum-Fabian, S., Schmidts, M., Mueller, A. J., Beck-Wödl, S., Haack, T. B., Schneider, H., Fuchs, H., Teufel, U., Gramer, G., Hannibal, L., Spiekerkoetter, U.
المصدر: BMC Pediatrics ; volume 20, issue 1 ; ISSN 1471-2431
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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5دورية أكاديمية
المؤلفون: Kampmeier, A., Leitao, E., Parenti, I., Beygo, J., Depienne, C., Bramswig, N.C., Hsieh, T.C., Afenjar, A., Beck-Wödl, S., Grasshoff, U., Haack, T.B., Bijlsma, E.K., Ruivenkamp, C., Lausberg, E., Elbracht, M., Haanpää, M.K., Koillinen, H., Heinrich, U., Rost, I., Jamra, R.A., Popp, D., Koch-Hogrebe, M., Rostasy, K., López-González, V., Sanchez-Soler, M.J., Macedo, C., Schmetz, A., Steinborn, C., Weidensee, S., Lesmann, H., Marbach, F., Caro, P., Schaaf, C.P., Krawitz, P., Wieczorek, D., Kaiser, F.J., Kuechler, A.
المصدر: Frontiers in Cell and Developmental Biology
مصطلحات موضوعية: Chung-Jansen syndrome, CHUJANS, PHIP, DIDOD syndrome, ID, DD, obesity, CUL4B
وصف الملف: application/pdf
العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1020609/fullTest; lumc-id: 185871323; https://hdl.handle.net/1887/3750386Test
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6دورية أكاديمية
المؤلفون: Oppermann, H., Marcos-Grañeda, E., Weiss, L.A., Gurnett, C.A., Jelsig, A.M., Vineke, S.H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A.T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J., Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L.M., Semina, E.V., Reuter, M.S., Scherer, S.W., Iascone, M., Weis, D., Fagerberg, C.R., Brasch-Andersen, C., Hansen, L.K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T.B., Pavlidou, D.C., Atallah, I., Vodopiutz, J., Janecke, A.R., Hsieh, T.C., Lesmann, H., Klinkhammer, H., Krawitz, P.M., Lemke, J.R., Jamra, R.A., Nieto, M., Tümer, Z., Platzer, K.
المصدر: European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
مصطلحات موضوعية: Adult, Animals, Humans, Mice, Heterozygote, Homeodomain Proteins/genetics, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Phenotype, Repressor Proteins/genetics, Seizures, Transcription Factors/genetics, Transcription Factors/metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37644171; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest; urn:issn:1018-4813
الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest -
7دورية أكاديمية
المؤلفون: Park, J., Koko, M., Hedrich, U.B.S., Hermann, A., Cremer, K., Haberlandt, E., Grimmel, M., Alhaddad, B., Beck-Woedl, S., Harrer, M., Karall, D., Kingelhoefer, L., Tzschach, A., Matthies, L.C., Strom, T.M., Ringelstein, E.B., Sturm, M., Engels, H., Wolff, M., Lerche, H., Haack, T.B.
المصدر: Ann. Clin. Transl. Neurol. 6, 1319-1326 (2019)
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31353862; info:eu-repo/semantics/altIdentifier/wos/WOS:000476766600016; info:eu-repo/semantics/altIdentifier/isbn/2328-9503; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=56384Test; urn:isbn:2328-9503; urn:issn:2328-9503
الإتاحة: https://doi.org/10.1002/acn3.50799Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=56384Test -
8دورية أكاديمية
المؤلفون: van der Sluijs, E.P.J. (Eline (P.J.)), Jansen, S. (Sandra), Vergano, S.A. (Samantha A.), Adachi-Fukuda, M. (Miho), Alanay, Y. (Yasemin), AlKindy, A. (Adila), Baban, A. (Anwar), Bayat, A. (Allan), Beck-Wödl, S. (Stefanie), Berry, K. (Katherine), Bijlsma, E.K. (Emilia), Bok, L.A. (Levinus), Brouwer, A.F.J. (Alwin F. J.), Burgt, I. (Ineke) van der, Campeau, P.M. (Philippe M.), Canham, N. (Natalie), Chrzanowska, K.H. (Krystyna), Chu, Y.W.Y. (Yoyo W. Y.), Chung, B.H.Y. (Brain H. Y.), Dahan, K. (Karin), De Rademaeker, M. (Marjan), Destrée, A. (Anne), Dudding-Byth, T. (Tracy), Earl, R. (Rachel), Elcioglu, N.H. (Nursel), Elias, E.R. (Ellen R.), Fagerberg, C. (Christina), Gardham, A. (Alice), Gener, B. (Blanca), Gerkes, E.H. (Erica H), Grasshoff, U. (Ute), Haeringen, A. (Arie) van, Heitink, K.R. (Karin R.), Herkert, J.C. (Johanna), Hollander, N.S. (Nicolette) den, Horn, D. (Denise), Hunt, D. (David), Kant, S.G. (Sarina), Kato, M. (Mitsuhiro), Kayserili, H. (Hülya), Kersseboom, R. (Rogier), Kilic, E. (Esra), Krajewska-Walasek, M. (Malgorzata), Lammers, K. (Kylin), Laulund, L.W. (Lone W.), Lederer, D. (Damien), Lees, M.M. (Melissa), López-González, V. (V.), Maas, S.M. (Saskia), Mancini, G.M.S. (Grazia), Marcelis, C.L.M. (Carlo), Martinez, F. (Francisco), Maystadt, I. (Isabelle), McGuire, M. (Marianne), McKee, S., Mehta, S. (Sarju), Metcalfe, K. (Kay), Milunsky, J.M. (Jeff), Mizuno, S. (Seiji), Moeschler, J.B. (John B.), Netzer, C. (Christian), Ockeloen, C. (Charlotte), Oehl-Jaschkowitz, B. (Barbara), Okamoto, N. (Nobuhiko), Olminkhof, S.N.M. (Sharon N. M.), Orellana, C. (Carmen), Pasquier, L. (Laurent), Pottinger, C. (Caroline), Riehmer, V. (Vera), Robertson, S.P. (Stephen), Roifman, M. (Maian), Rooryck, C. (Caroline), Ropers, F.G. (Fabienne G.), Rosello, M. (Monica), Ruivenkamp, C.A. (Claudia), Sagiroglu, M.S. (Mahmut S.), Sallevelt, S.C.E.H. (Suzanne), Sanchis Calvo, A. (Amparo), Simsek-Kiper, P.O. (P.), Soares, G. (Gabriela), Solaeche, L. (Lucia), Mujgan Sonmez, F. (Fatma), Splitt, M. (M.), Steenbeek, D. (Duco), Stegmann, A.P.A. (Alexander P. A.), Stumpel, C. (Connie), Tanabe, S. (Saori), Uctepe, E. (Eyyup), Utine, G.E. (G. Eda), Veenstra-Knol, H.E. (Hermine), Venkateswaran, S. (Sunita), Vilain, C. (Catheline), Vincent-Delorme, C. (Catherine), Vulto-van Silfhout, A.T. (Anneke), Wheeler, P. (Patricia), Wilson, G.N. (Golder N.), Wilson, L.C. (Louise), Wollnik, B. (Bernd), Kosho, T. (Tomoki), Wieczorek, D. (Dagmar), Eichler, E.E. (Evan), Pfundt, R. (Rolph), Vries, B. (Boukje) de, Clayton-Smith, J., Santen, G.W.E. (Gijs)
المصدر: Genetics in Medicine
مصطلحات موضوعية: ARID1B, bias, Coffin–Siris syndrome, intellectual disability
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/111659Test; urn:hdl:1765/111659
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9دورية أكاديمية
المؤلفون: Kuechler, A., Czeschik, J.C., Graf, E., Grasshoff, U., Hueffmeier, U., Busa, T., Beck-Woedl, S., Faivre, L., Riviere, J., Bader, I., Koch, J., Reis, A., Hehr, U., Rittinger, O., Sperl, W., Haack, T.B., Wieland, T., Engels, H., Prokisch, H., Strom, T.M., Luedecke, H., Wieczorek, D.
المصدر: Eur. J. Hum. Genet. 25, 183-191 (2017)
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27901041; info:eu-repo/semantics/altIdentifier/wos/WOS:000394122900010; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50815Test; urn:isbn:1018-4813; urn:issn:1018-4813; urn:issn:1476-5438
الإتاحة: https://doi.org/10.1038/ejhg.2016.165Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50815Test -
10مؤتمر
المؤلفون: Santhanakumaran, V., Pechan, M., Knauer, V., Merkel, G., Böhringer, J., Harzer, K., Laugwitz, L., Beck-Wödl, S., Krägeloh-Mann, I., Groeschel, S.
المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899
الإتاحة: https://doi.org/10.1055Test/s-0041-1739622
النص الكامل