المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 110(6), 963-978. Cell Press
American Journal of Human Genetics, 110, 6, pp. 963-978
American Journal of Human Genetics, 110, 963-978

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], SDG 3 - Good Health and Well-being, Genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8143c733f6eac531e487435c91e46cb2
https://doi.org/10.1016/j.ajhg.2023.04.008

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المؤلفون: Robinson, H.K., Zaklyazminskaya, E., Povolotskaya, I., Surikova, Y., Mallin, L., Armstrong, C., Mabin, D., Benke, P.J., Chrisant, M.R., McDonald, M., Marboe, C.C., Agre, K.E., Deyle, D.R., McWalter, K., Douglas, G., Balashova, M.S., Kaimonov, V., Shirokova, N., Pomerantseva, E., Turner, C.L.

المصدر: Clinical Genetics; Oct2020, Vol. 98 Issue 4, p331-340, 10p

مصطلحات موضوعية: DILATED cardiomyopathy, P53 protein, HEART failure, GENETIC testing, SUDDEN death, EXOMES

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المؤلفون: Bornholdt, D., Oeffner, F., Konig, A., Happle, R.H.G., Alanay, Y., Ascherman, J., Benke, P.J., Boente Mdel, C., Burgt, I. van der, Chassaing, N., Ellis, I., Francisco, C.R., Giovanna, P. Della, Hamel, B.C.J., Has, C., Heinelt, K., Janecke, A., Kastrup, W., Loeys, B.L., Lohrisch, I., Marcelis, C.L.M., Mehraein, Y., Nicolas, M.E., Pagliarini, D., Paradisi, M., Patrizi, A., Piccione, M., Piza-Katzer, H., Prager, B., Prescott, K., Strien, J., Utine, G.E., Zeller, M.S., Grzeschik, K.H.

المساهمون: Bornholdt, D, Oeffner, F, König, A, Happle, R, Alanay, Y, Ascherman, J, Benke, PJ, Boente Mdel C, van der Burgt I, Chassaing, N, Ellis, I, Francisco, CR, Della Giovanna P, Hamel, B, Has, C, Heinelt, K, Janecke, A, Kastrup, W, Loeys, B, Lohrisch, I, Marcelis, C, Mehraein, Y, Nicolas, ME, Pagliarini, D, Paradisi, M, Patrizi, A, Piccione, M, Piza-Katzer, H, Prager, B, Prescott, K, Strien, J, Utine, GE, Zeller, MS, Grzeschik, KH, Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Chassaing N, Ellis I, Francisco CR, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH

المصدر: Human Mutation, 30, 5, pp. E618-28
Human Mutation, 30, E618-28

مصطلحات موضوعية: Adult, Male, Adolescent, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Infant, Newborn, Infant, Membrane Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Focal Dermal Hypoplasia, Settore MED/38 - Pediatria Generale E Specialistica, Settore MED/03 - Genetica Medica, Child, Preschool, Mutation, Goltz syndrome, FDH, PORCN, WNT, skewed X-inactivation, postzygotic mosaic, Humans, Protein Isoforms, Female, Amino Acid Sequence, Child, Acyltransferases

وصف الملف: STAMPA; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e5b8f7a9ef9ef149ca41a9173767ca3f
https://hdl.handle.net/2066/81709

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